nstd137 (Huddleston et al. 2016)
- Organism:
- Human
- Study Type:
- Collection
- Submitter:
- John Huddleston
- Description:
- In an effort to more fully understand the full spectrum of human genetic variation, we generated deep single-molecule, real-time (SMRT) sequencing data from two haploid human genomes. Using an assembly-based approach (SMRT-SV), we systematically assessed each genome independently for structural variants (SVs) and indels resolving the sequence structure of 461,553 genetic variants from 2 bp to 28 kbp in length. We find that 82% of these variants have been missed as part of analysis of the 1000 Genomes Project. We estimate that this theoretical human diploid differs by as much as ~16 Mbp with respect to the human reference, with long-read sequencing data providing a fivefold increase in sensitivity for genetic variants ranging in size from 7 bp to 1 kbp when compared to short-read sequence data. See Variant Summary counts for nstd137 in dbVar Variant Summary.
- Project:
- PRJNA335618
- Publication(s):
- Huddleston et al. 2016
- Last updated:
- 2016-10-01
Detailed Information: Download 32954 Variant Regions, Download 35154 Variant Calls, Download Both, FTP
Variant Summary
Assembly used for analysis:
Submitted: GRCh38 (hg38)
Remapped: GRCh37.p13 (hg19)
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.11 | Chr1 | 2,202 | 2,369 | Submitted | NC_000001.11 |
| NC_000002.12 | Chr2 | 2,400 | 2,522 | Submitted | NC_000002.12 |
| NC_000003.12 | Chr3 | 1,820 | 1,958 | Submitted | NC_000003.12 |
| NC_000004.12 | Chr4 | 1,955 | 2,043 | Submitted | NC_000004.12 |
| NC_000005.10 | Chr5 | 1,729 | 1,821 | Submitted | NC_000005.10 |
| NC_000006.12 | Chr6 | 1,988 | 2,148 | Submitted | NC_000006.12 |
| NC_000007.14 | Chr7 | 2,127 | 2,254 | Submitted | NC_000007.14 |
| NC_000008.11 | Chr8 | 1,400 | 1,514 | Submitted | NC_000008.11 |
| NC_000009.12 | Chr9 | 1,186 | 1,294 | Submitted | NC_000009.12 |
| NC_000010.11 | Chr10 | 1,616 | 1,709 | Submitted | NC_000010.11 |
| NC_000011.10 | Chr11 | 1,350 | 1,486 | Submitted | NC_000011.10 |
| NC_000012.12 | Chr12 | 1,495 | 1,601 | Submitted | NC_000012.12 |
| NC_000013.11 | Chr13 | 1,190 | 1,275 | Submitted | NC_000013.11 |
| NC_000014.9 | Chr14 | 734 | 777 | Submitted | NC_000014.9 |
| NC_000015.10 | Chr15 | 738 | 795 | Submitted | NC_000015.10 |
| NC_000016.10 | Chr16 | 1,122 | 1,186 | Submitted | NC_000016.10 |
| NC_000017.11 | Chr17 | 1,763 | 1,858 | Submitted | NC_000017.11 |
| NC_000018.10 | Chr18 | 964 | 1,020 | Submitted | NC_000018.10 |
| NC_000019.10 | Chr19 | 1,023 | 1,094 | Submitted | NC_000019.10 |
| NC_000020.11 | Chr20 | 1,106 | 1,183 | Submitted | NC_000020.11 |
| NC_000021.9 | Chr21 | 727 | 764 | Submitted | NC_000021.9 |
| NC_000022.11 | Chr22 | 645 | 695 | Submitted | NC_000022.11 |
| NC_000023.11 | ChrX | 1,409 | 1,516 | Submitted | NC_000023.11 |
| KI270741.1 | Unplaced|KI270741.1 | 16 | 16 | Submitted | KI270741.1 |
| GL000214.1 | Unplaced|GL000214.1 | 9 | 9 | Submitted | GL000214.1 |
| GL000219.1 | Unplaced|GL000219.1 | 8 | 8 | Submitted | GL000219.1 |
| KI270435.1 | Unplaced|KI270435.1 | 4 | 4 | Submitted | KI270435.1 |
| KI270442.1 | Unplaced|KI270442.1 | 18 | 18 | Submitted | KI270442.1 |
| KI270519.1 | Unplaced|KI270519.1 | 4 | 4 | Submitted | KI270519.1 |
| KI270538.1 | Unplaced|KI270538.1 | 15 | 15 | Submitted | KI270538.1 |
| KI270579.1 | Unplaced|KI270579.1 | 3 | 3 | Submitted | KI270579.1 |
| KI270589.1 | Unplaced|KI270589.1 | 1 | 1 | Submitted | KI270589.1 |
| KI270742.1 | Unplaced|KI270742.1 | 2 | 3 | Submitted | KI270742.1 |
| KI270743.1 | Unplaced|KI270743.1 | 6 | 6 | Submitted | KI270743.1 |
| KI270744.1 | Unplaced|KI270744.1 | 7 | 7 | Submitted | KI270744.1 |
| KI270748.1 | Unplaced|KI270748.1 | 6 | 6 | Submitted | KI270748.1 |
| KI270749.1 | Unplaced|KI270749.1 | 6 | 6 | Submitted | KI270749.1 |
| KI270750.1 | Unplaced|KI270750.1 | 6 | 6 | Submitted | KI270750.1 |
| KI270751.1 | Unplaced|KI270751.1 | 5 | 5 | Submitted | KI270751.1 |
| KI270753.1 | Unplaced|KI270753.1 | 5 | 6 | Submitted | KI270753.1 |
| KI270756.1 | Unplaced|KI270756.1 | 1 | 1 | Submitted | KI270756.1 |
| KI270706.1 | Chr1|KI270706.1 | 2 | 3 | Submitted | KI270706.1 |
| KI270712.1 | Chr1|KI270712.1 | 13 | 14 | Submitted | KI270712.1 |
| KI270714.1 | Chr1|KI270714.1 | 1 | 1 | Submitted | KI270714.1 |
| KI270715.1 | Chr2|KI270715.1 | 6 | 6 | Submitted | KI270715.1 |
| KI270716.1 | Chr2|KI270716.1 | 10 | 10 | Submitted | KI270716.1 |
| GL000008.2 | Chr4|GL000008.2 | 1 | 1 | Submitted | GL000008.2 |
| KI270719.1 | Chr9|KI270719.1 | 2 | 2 | Submitted | KI270719.1 |
| GL000194.1 | Chr14|GL000194.1 | 3 | 3 | Submitted | GL000194.1 |
| KI270722.1 | Chr14|KI270722.1 | 6 | 7 | Submitted | KI270722.1 |
| KI270723.1 | Chr14|KI270723.1 | 1 | 1 | Submitted | KI270723.1 |
| KI270725.1 | Chr14|KI270725.1 | 3 | 3 | Submitted | KI270725.1 |
| KI270727.1 | Chr15|KI270727.1 | 1 | 1 | Submitted | KI270727.1 |
| KI270728.1 | Chr16|KI270728.1 | 16 | 18 | Submitted | KI270728.1 |
| KI270729.1 | Chr17|KI270729.1 | 32 | 32 | Submitted | KI270729.1 |
| GL000208.1 | Chr19|GL000208.1 | 4 | 4 | Submitted | GL000208.1 |
| KI270731.1 | Chr22|KI270731.1 | 3 | 3 | Submitted | KI270731.1 |
| KI270732.1 | Chr22|KI270732.1 | 1 | 1 | Submitted | KI270732.1 |
| KI270736.1 | Chr22|KI270736.1 | 1 | 1 | Submitted | KI270736.1 |
| KI270737.1 | Chr22|KI270737.1 | 26 | 26 | Submitted | KI270737.1 |
| KI270738.1 | Chr22|KI270738.1 | 11 | 11 | Submitted | KI270738.1 |
| Sequence ID | Chr | Number of Variant Regions | Number of Variant Calls | Placement type | Link to graphical display |
|---|---|---|---|---|---|
| NC_000001.10 | Chr1 | 2,073 | 2,237 | Remapped | NC_000001.10 |
| NC_000002.11 | Chr2 | 2,373 | 2,493 | Remapped | NC_000002.11 |
| NC_000003.11 | Chr3 | 1,684 | 1,822 | Remapped | NC_000003.11 |
| NC_000004.11 | Chr4 | 1,931 | 2,017 | Remapped | NC_000004.11 |
| NC_000005.9 | Chr5 | 1,727 | 1,819 | Remapped | NC_000005.9 |
| NC_000006.11 | Chr6 | 1,900 | 2,054 | Remapped | NC_000006.11 |
| NC_000007.13 | Chr7 | 2,071 | 2,195 | Remapped | NC_000007.13 |
| NC_000008.10 | Chr8 | 1,368 | 1,481 | Remapped | NC_000008.10 |
| NC_000009.11 | Chr9 | 1,156 | 1,262 | Remapped | NC_000009.11 |
| NC_000010.10 | Chr10 | 1,533 | 1,625 | Remapped | NC_000010.10 |
| NC_000011.9 | Chr11 | 1,312 | 1,448 | Remapped | NC_000011.9 |
| NC_000012.11 | Chr12 | 1,481 | 1,587 | Remapped | NC_000012.11 |
| NC_000013.10 | Chr13 | 1,174 | 1,258 | Remapped | NC_000013.10 |
| NC_000014.8 | Chr14 | 723 | 766 | Remapped | NC_000014.8 |
| NC_000015.9 | Chr15 | 726 | 781 | Remapped | NC_000015.9 |
| NC_000016.9 | Chr16 | 1,119 | 1,184 | Remapped | NC_000016.9 |
| NC_000017.10 | Chr17 | 1,054 | 1,127 | Remapped | NC_000017.10 |
| NC_000018.9 | Chr18 | 952 | 1,008 | Remapped | NC_000018.9 |
| NC_000019.9 | Chr19 | 970 | 1,040 | Remapped | NC_000019.9 |
| NC_000020.10 | Chr20 | 897 | 968 | Remapped | NC_000020.10 |
| NC_000021.8 | Chr21 | 688 | 725 | Remapped | NC_000021.8 |
| NC_000022.10 | Chr22 | 614 | 661 | Remapped | NC_000022.10 |
| NC_000023.10 | ChrX | 1,302 | 1,396 | Remapped | NC_000023.10 |
| NC_000024.9 | ChrY | 3 | 4 | Remapped | NC_000024.9 |
| NT_113923.1 | Unplaced|NT_113923.1 | 10 | 10 | Remapped | NT_113923.1 |
| NT_167214.1 | Unplaced|NT_167214.1 | 1 | 1 | Remapped | NT_167214.1 |
| NT_167213.1 | Unplaced|NT_167213.1 | 2 | 2 | Remapped | NT_167213.1 |
| NT_167225.1 | Unplaced|NT_167225.1 | 3 | 3 | Remapped | NT_167225.1 |
| NT_167226.1 | Unplaced|NT_167226.1 | 2 | 2 | Remapped | NT_167226.1 |
| NT_167229.1 | Unplaced|NT_167229.1 | 1 | 1 | Remapped | NT_167229.1 |
| NT_167230.1 | Unplaced|NT_167230.1 | 1 | 1 | Remapped | NT_167230.1 |
| NT_167207.1 | Chr1|NT_167207.1 | 3 | 3 | Remapped | NT_167207.1 |
| NW_003315903.1 | Chr1|NW_003315903.1 | 1 | 1 | Remapped | NW_003315903.1 |
| NW_003315904.1 | Chr1|NW_003315904.1 | 2 | 2 | Remapped | NW_003315904.1 |
| NW_003571030.1 | Chr1|NW_003571030.1 | 12 | 12 | Remapped | NW_003571030.1 |
| NW_003871055.3 | Chr1|NW_003871055.3 | 60 | 63 | Remapped | NW_003871055.3 |
| NW_003871056.3 | Chr1|NW_003871056.3 | 11 | 13 | Remapped | NW_003871056.3 |
| NW_003871057.1 | Chr1|NW_003871057.1 | 2 | 2 | Remapped | NW_003871057.1 |
| NW_004070863.1 | Chr1|NW_004070863.1 | 2 | 2 | Remapped | NW_004070863.1 |
| NW_004070865.1 | Chr1|NW_004070865.1 | 1 | 1 | Remapped | NW_004070865.1 |
| NW_003571031.1 | Chr2|NW_003571031.1 | 11 | 13 | Remapped | NW_003571031.1 |
| NW_004504299.1 | Chr2|NW_004504299.1 | 4 | 5 | Remapped | NW_004504299.1 |
| NW_003315911.1 | Chr3|NW_003315911.1 | 1 | 1 | Remapped | NW_003315911.1 |
| NW_003315912.1 | Chr3|NW_003315912.1 | 1 | 1 | Remapped | NW_003315912.1 |
| NW_003871058.1 | Chr3|NW_003871058.1 | 6 | 7 | Remapped | NW_003871058.1 |
| NW_003871059.1 | Chr3|NW_003871059.1 | 2 | 2 | Remapped | NW_003871059.1 |
| NW_003871060.1 | Chr3|NW_003871060.1 | 5 | 5 | Remapped | NW_003871060.1 |
| NW_004775426.1 | Chr3|NW_004775426.1 | 1 | 1 | Remapped | NW_004775426.1 |
| NT_113885.1 | Chr4|NT_113885.1 | 4 | 4 | Remapped | NT_113885.1 |
| NW_003571034.1 | Chr4|NW_003571034.1 | 7 | 7 | Remapped | NW_003571034.1 |
| NW_003571035.1 | Chr4|NW_003571035.1 | 3 | 4 | Remapped | NW_003571035.1 |
| NW_004775427.1 | Chr4|NW_004775427.1 | 6 | 6 | Remapped | NW_004775427.1 |
| NW_003871061.1 | Chr5|NW_003871061.1 | 2 | 2 | Remapped | NW_003871061.1 |
| NW_004775428.1 | Chr5|NW_004775428.1 | 1 | 1 | Remapped | NW_004775428.1 |
| NT_167249.1 | Chr6|NT_167249.1 | 3 | 4 | Remapped | NT_167249.1 |
| NW_003871062.1 | Chr6|NW_003871062.1 | 3 | 3 | Remapped | NW_003871062.1 |
| NW_004070866.1 | Chr6|NW_004070866.1 | 3 | 3 | Remapped | NW_004070866.1 |
| NW_004166862.1 | Chr6|NW_004166862.1 | 1 | 1 | Remapped | NW_004166862.1 |
| NW_004504300.1 | Chr6|NW_004504300.1 | 8 | 10 | Remapped | NW_004504300.1 |
| NW_004775429.1 | Chr6|NW_004775429.1 | 54 | 56 | Remapped | NW_004775429.1 |
| NT_113901.1 | Chr7|NT_113901.1 | 1 | 1 | Remapped | NT_113901.1 |
| NW_003571037.1 | Chr7|NW_003571037.1 | 6 | 8 | Remapped | NW_003571037.1 |
| NW_003571038.1 | Chr7|NW_003571038.1 | 7 | 8 | Remapped | NW_003571038.1 |
| NW_003571039.1 | Chr7|NW_003571039.1 | 10 | 10 | Remapped | NW_003571039.1 |
| NW_003571040.1 | Chr7|NW_003571040.1 | 12 | 13 | Remapped | NW_003571040.1 |
| NW_003571041.1 | Chr7|NW_003571041.1 | 1 | 1 | Remapped | NW_003571041.1 |
| NW_003871064.1 | Chr7|NW_003871064.1 | 44 | 48 | Remapped | NW_003871064.1 |
| NW_003871065.1 | Chr7|NW_003871065.1 | 4 | 4 | Remapped | NW_003871065.1 |
| NW_004775430.1 | Chr7|NW_004775430.1 | 2 | 3 | Remapped | NW_004775430.1 |
| NW_003315923.1 | Chr8|NW_003315923.1 | 27 | 28 | Remapped | NW_003315923.1 |
| NW_003315924.1 | Chr8|NW_003315924.1 | 13 | 15 | Remapped | NW_003315924.1 |
| NW_003571042.1 | Chr8|NW_003571042.1 | 10 | 11 | Remapped | NW_003571042.1 |
| NW_003871066.2 | Chr8|NW_003871066.2 | 2 | 2 | Remapped | NW_003871066.2 |
| NT_113916.2 | Chr9|NT_113916.2 | 1 | 1 | Remapped | NT_113916.2 |
| NW_003315925.1 | Chr9|NW_003315925.1 | 9 | 11 | Remapped | NW_003315925.1 |
| NW_003315926.1 | Chr9|NW_003315926.1 | 3 | 3 | Remapped | NW_003315926.1 |
| NW_003315927.1 | Chr9|NW_003315927.1 | 2 | 2 | Remapped | NW_003315927.1 |
| NW_003871067.1 | Chr9|NW_003871067.1 | 6 | 6 | Remapped | NW_003871067.1 |
| NW_004070867.1 | Chr9|NW_004070867.1 | 4 | 4 | Remapped | NW_004070867.1 |
| NW_004070868.1 | Chr9|NW_004070868.1 | 7 | 7 | Remapped | NW_004070868.1 |
| NW_004070869.1 | Chr9|NW_004070869.1 | 4 | 4 | Remapped | NW_004070869.1 |
| NW_004504301.1 | Chr9|NW_004504301.1 | 3 | 4 | Remapped | NW_004504301.1 |
| NW_003315932.1 | Chr10|NW_003315932.1 | 6 | 6 | Remapped | NW_003315932.1 |
| NW_003315933.1 | Chr10|NW_003315933.1 | 3 | 4 | Remapped | NW_003315933.1 |
| NW_003571043.1 | Chr10|NW_003571043.1 | 2 | 2 | Remapped | NW_003571043.1 |
| NW_003871068.1 | Chr10|NW_003871068.1 | 31 | 33 | Remapped | NW_003871068.1 |
| NW_003871069.1 | Chr10|NW_003871069.1 | 3 | 3 | Remapped | NW_003871069.1 |
| NW_003871071.1 | Chr10|NW_003871071.1 | 10 | 10 | Remapped | NW_003871071.1 |
| NW_004070870.1 | Chr10|NW_004070870.1 | 14 | 14 | Remapped | NW_004070870.1 |
| NW_004775432.1 | Chr10|NW_004775432.1 | 3 | 3 | Remapped | NW_004775432.1 |
| NT_113921.2 | Chr11|NT_113921.2 | 1 | 1 | Remapped | NT_113921.2 |
| NW_003571045.1 | Chr11|NW_003571045.1 | 1 | 1 | Remapped | NW_003571045.1 |
| NW_003571046.1 | Chr11|NW_003571046.1 | 2 | 2 | Remapped | NW_003571046.1 |
| NW_003871072.2 | Chr11|NW_003871072.2 | 4 | 5 | Remapped | NW_003871072.2 |
| NW_003871075.1 | Chr11|NW_003871075.1 | 4 | 4 | Remapped | NW_003871075.1 |
| NW_003871079.1 | Chr11|NW_003871079.1 | 1 | 1 | Remapped | NW_003871079.1 |
| NW_003871080.1 | Chr11|NW_003871080.1 | 1 | 1 | Remapped | NW_003871080.1 |
| NW_003871081.1 | Chr11|NW_003871081.1 | 2 | 3 | Remapped | NW_003871081.1 |
| NW_004070871.1 | Chr11|NW_004070871.1 | 10 | 11 | Remapped | NW_004070871.1 |
| NW_003315937.1 | Chr12|NW_003315937.1 | 19 | 19 | Remapped | NW_003315937.1 |
| NW_003571048.1 | Chr12|NW_003571048.1 | 14 | 15 | Remapped | NW_003571048.1 |
| NW_003871083.2 | Chr12|NW_003871083.2 | 8 | 8 | Remapped | NW_003871083.2 |
| NW_004504303.2 | Chr12|NW_004504303.2 | 1 | 2 | Remapped | NW_004504303.2 |
| NW_003571051.1 | Chr13|NW_003571051.1 | 1 | 1 | Remapped | NW_003571051.1 |
| NW_004166863.1 | Chr14|NW_004166863.1 | 40 | 40 | Remapped | NW_004166863.1 |
| NW_003871084.1 | Chr15|NW_003871084.1 | 3 | 4 | Remapped | NW_003871084.1 |
| NW_003871085.1 | Chr16|NW_003871085.1 | 1 | 1 | Remapped | NW_003871085.1 |
| NT_113930.1 | Chr17|NT_113930.1 | 1 | 1 | Remapped | NT_113930.1 |
| NW_003315947.1 | Chr17|NW_003315947.1 | 1 | 1 | Remapped | NW_003315947.1 |
| NW_003315948.2 | Chr17|NW_003315948.2 | 3 | 3 | Remapped | NW_003315948.2 |
| NW_003315949.1 | Chr17|NW_003315949.1 | 1 | 1 | Remapped | NW_003315949.1 |
| NW_003315950.2 | Chr17|NW_003315950.2 | 282 | 287 | Remapped | NW_003315950.2 |
| NW_003315951.1 | Chr17|NW_003315951.1 | 6 | 6 | Remapped | NW_003315951.1 |
| NW_003571052.1 | Chr17|NW_003571052.1 | 1 | 1 | Remapped | NW_003571052.1 |
| NW_003871087.1 | Chr17|NW_003871087.1 | 5 | 6 | Remapped | NW_003871087.1 |
| NW_003871088.1 | Chr17|NW_003871088.1 | 6 | 7 | Remapped | NW_003871088.1 |
| NW_003871089.1 | Chr17|NW_003871089.1 | 13 | 14 | Remapped | NW_003871089.1 |
| NW_003871090.1 | Chr17|NW_003871090.1 | 2 | 2 | Remapped | NW_003871090.1 |
| NW_004070872.2 | Chr17|NW_004070872.2 | 212 | 225 | Remapped | NW_004070872.2 |
| NW_004775433.1 | Chr17|NW_004775433.1 | 155 | 155 | Remapped | NW_004775433.1 |
| NW_003571053.2 | Chr19|NW_003571053.2 | 4 | 6 | Remapped | NW_003571053.2 |
| NW_003871094.1 | Chr19|NW_003871094.1 | 21 | 23 | Remapped | NW_003871094.1 |
| NW_004166865.1 | Chr19|NW_004166865.1 | 42 | 42 | Remapped | NW_004166865.1 |
| NW_004775434.1 | Chr19|NW_004775434.1 | 8 | 8 | Remapped | NW_004775434.1 |
| NW_003571063.2 | Chr20|NW_003571063.2 | 6 | 6 | Remapped | NW_003571063.2 |
| NW_003871095.1 | Chr20|NW_003871095.1 | 1 | 2 | Remapped | NW_003871095.1 |
| NW_004504304.1 | Chr20|NW_004504304.1 | 6 | 7 | Remapped | NW_004504304.1 |
| NW_003315968.1 | Chr21|NW_003315968.1 | 1 | 1 | Remapped | NW_003315968.1 |
| NW_004775435.1 | Chr21|NW_004775435.1 | 5 | 5 | Remapped | NW_004775435.1 |
| NT_113961.1 | Chr22|NT_113961.1 | 1 | 1 | Remapped | NT_113961.1 |
| NW_003871096.1 | Chr22|NW_003871096.1 | 5 | 5 | Remapped | NW_003871096.1 |
| NW_004070876.1 | Chr22|NW_004070876.1 | 4 | 4 | Remapped | NW_004070876.1 |
| NT_167212.1 | Chr22|NT_167212.1 | 1 | 1 | Remapped | NT_167212.1 |
| NT_167234.1 | Chr22|NT_167234.1 | 2 | 2 | Remapped | NT_167234.1 |
| NW_003571064.2 | ChrX|NW_003571064.2 | 53 | 54 | Remapped | NW_003571064.2 |
| NW_003871100.1 | ChrX|NW_003871100.1 | 8 | 10 | Remapped | NW_003871100.1 |
| NW_003871101.3 | ChrX|NW_003871101.3 | 1 | 1 | Remapped | NW_003871101.3 |
| NW_003871103.3 | ChrX|NW_003871103.3 | 25 | 27 | Remapped | NW_003871103.3 |
| NW_004070877.1 | ChrX|NW_004070877.1 | 53 | 56 | Remapped | NW_004070877.1 |
| NW_004070878.1 | ChrX|NW_004070878.1 | 2 | 2 | Remapped | NW_004070878.1 |
| NW_004070879.1 | ChrX|NW_004070879.1 | 5 | 5 | Remapped | NW_004070879.1 |
| NW_004070880.2 | ChrX|NW_004070880.2 | 13 | 14 | Remapped | NW_004070880.2 |
| NW_004070881.1 | ChrX|NW_004070881.1 | 2 | 2 | Remapped | NW_004070881.1 |
| NW_004070882.1 | ChrX|NW_004070882.1 | 1 | 2 | Remapped | NW_004070882.1 |
| NW_004070883.1 | ChrX|NW_004070883.1 | 3 | 3 | Remapped | NW_004070883.1 |
| NW_004070884.1 | ChrX|NW_004070884.1 | 1 | 1 | Remapped | NW_004070884.1 |
| NW_004070885.1 | ChrX|NW_004070885.1 | 4 | 4 | Remapped | NW_004070885.1 |
| NW_004070886.1 | ChrX|NW_004070886.1 | 1 | 1 | Remapped | NW_004070886.1 |
| NW_004070887.1 | ChrX|NW_004070887.1 | 7 | 7 | Remapped | NW_004070887.1 |
| NW_004070888.1 | ChrX|NW_004070888.1 | 14 | 14 | Remapped | NW_004070888.1 |
| NW_004070889.1 | ChrX|NW_004070889.1 | 19 | 21 | Remapped | NW_004070889.1 |
| NW_004070890.2 | ChrX|NW_004070890.2 | 61 | 73 | Remapped | NW_004070890.2 |
| NW_004070891.1 | ChrX|NW_004070891.1 | 22 | 22 | Remapped | NW_004070891.1 |
| NW_004070892.1 | ChrX|NW_004070892.1 | 5 | 5 | Remapped | NW_004070892.1 |
| NW_004166866.1 | ChrX|NW_004166866.1 | 3 | 5 | Remapped | NW_004166866.1 |
| CM000663.1 | Chr1 | 7 | 9 | Remapped | CM000663.1 |
| CM000664.1 | Chr2 | 3 | 3 | Remapped | CM000664.1 |
| CM000666.1 | Chr4 | 5 | 5 | Remapped | CM000666.1 |
| CM000670.1 | Chr8 | 2 | 2 | Remapped | CM000670.1 |
| CM000671.1 | Chr9 | 3 | 3 | Remapped | CM000671.1 |
| CM000677.1 | Chr15 | 8 | 9 | Remapped | CM000677.1 |
| CM000678.1 | Chr16 | 13 | 14 | Remapped | CM000678.1 |
| CM000683.1 | Chr21 | 5 | 5 | Remapped | CM000683.1 |
| CM000684.1 | Chr22 | 3 | 3 | Remapped | CM000684.1 |
| CM000686.1 | ChrY | 3 | 3 | Remapped | CM000686.1 |
| GL000225.1 | Unplaced|GL000225.1 | 1 | 1 | Remapped | GL000225.1 |
| GL000233.1 | Unplaced|GL000233.1 | 1 | 1 | Remapped | GL000233.1 |
| GL000214.1 | Unplaced|GL000214.1 | 18 | 18 | Remapped | GL000214.1 |
| GL000217.1 | Unplaced|GL000217.1 | 1 | 1 | Remapped | GL000217.1 |
| GL000219.1 | Unplaced|GL000219.1 | 9 | 9 | Remapped | GL000219.1 |
| GL000224.1 | Unplaced|GL000224.1 | 12 | 12 | Remapped | GL000224.1 |
| JH636052.4 | Chr1|JH636052.4 | 1 | 1 | Remapped | JH636052.4 |
| GL000194.1 | Chr4|GL000194.1 | 3 | 3 | Remapped | GL000194.1 |
| KE332502.1 | Chr17|KE332502.1 | 7 | 7 | Remapped | KE332502.1 |
| GL383561.2 | Chr17|GL383561.2 | 2 | 2 | Remapped | GL383561.2 |
| GL000208.1 | Chr19|GL000208.1 | 4 | 4 | Remapped | GL000208.1 |
| JH806585.1 | Chr22|JH806585.1 | 11 | 11 | Remapped | JH806585.1 |
| Variant Region remap status | Variant Call remap status | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Sequence ID | Chr | Variant Regions on source | Perfect | Good | Pass | Fail | Mult | Variant Calls on source | Perfect | Good | Pass | Fail | Mult |
| GL000008.2 | Chr4|GL000008.2 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 0 |
| GL000194.1 | Chr14|GL000194.1 | 3 | 3 | 0 | 0 | 0 | 0 | 3 | 3 | 0 | 0 | 0 | 0 |
| GL000208.1 | Chr19|GL000208.1 | 4 | 4 | 0 | 0 | 0 | 0 | 4 | 4 | 0 | 0 | 0 | 0 |
| GL000214.1 | Unplaced|GL000214.1 | 9 | 9 | 0 | 0 | 0 | 0 | 9 | 9 | 0 | 0 | 0 | 0 |
| GL000219.1 | Unplaced|GL000219.1 | 8 | 8 | 0 | 0 | 0 | 0 | 8 | 8 | 0 | 0 | 0 | 0 |
| KI270435.1 | Unplaced|KI270435.1 | 4 | 0 | 0 | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 | 0 |
| KI270442.1 | Unplaced|KI270442.1 | 18 | 6 | 0 | 0 | 12 | 0 | 18 | 6 | 0 | 0 | 12 | 0 |
| KI270519.1 | Unplaced|KI270519.1 | 4 | 0 | 0 | 0 | 4 | 0 | 4 | 0 | 0 | 0 | 4 | 0 |
| KI270538.1 | Unplaced|KI270538.1 | 15 | 0 | 0 | 0 | 15 | 0 | 15 | 0 | 0 | 0 | 15 | 0 |
| KI270579.1 | Unplaced|KI270579.1 | 3 | 0 | 0 | 0 | 3 | 0 | 3 | 0 | 0 | 0 | 3 | 0 |
| KI270589.1 | Unplaced|KI270589.1 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 |
| KI270706.1 | Chr1|KI270706.1 | 2 | 2 | 0 | 0 | 0 | 0 | 3 | 3 | 0 | 0 | 0 | 0 |
| KI270712.1 | Chr1|KI270712.1 | 13 | 4 | 0 | 5 | 4 | 0 | 14 | 5 | 0 | 5 | 4 | 0 |
| KI270714.1 | Chr1|KI270714.1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 0 |
| KI270715.1 | Chr2|KI270715.1 | 6 | 0 | 0 | 0 | 6 | 0 | 6 | 0 | 0 | 0 | 6 | 0 |
| KI270716.1 | Chr2|KI270716.1 | 10 | 0 | 0 | 0 | 10 | 0 | 10 | 0 | 0 | 0 | 10 | 0 |
| KI270719.1 | Chr9|KI270719.1 | 2 | 1 | 1 | 0 | 0 | 0 | 2 | 1 | 1 | 0 | 0 | 0 |
| KI270722.1 | Chr14|KI270722.1 | 6 | 1 | 0 | 0 | 5 | 0 | 7 | 1 | 0 | 0 | 6 | 0 |
| KI270723.1 | Chr14|KI270723.1 | 1 | 1 | 0 | 0 | 0 | 0 | 1 | 1 | 0 | 0 | 0 | 0 |
| KI270725.1 | Chr14|KI270725.1 | 3 | 0 | 1 | 0 | 2 | 0 | 3 | 0 | 1 | 0 | 2 | 0 |
| KI270727.1 | Chr15|KI270727.1 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0 |
| KI270728.1 | Chr16|KI270728.1 | 16 | 10 | 0 | 0 | 6 | 0 | 18 | 11 | 0 | 0 | 7 | 0 |
| KI270729.1 | Chr17|KI270729.1 | 32 | 7 | 0 | 2 | 23 | 0 | 32 | 7 | 0 | 2 | 23 | 0 |
| KI270731.1 | Chr22|KI270731.1 | 3 | 2 | 1 | 0 | 0 | 0 | 3 | 2 | 1 | 0 | 0 | 0 |
| KI270732.1 | Chr22|KI270732.1 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 |
| KI270736.1 | Chr22|KI270736.1 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 |
| KI270737.1 | Chr22|KI270737.1 | 26 | 5 | 3 | 3 | 15 | 0 | 26 | 5 | 3 | 3 | 15 | 0 |
| KI270738.1 | Chr22|KI270738.1 | 11 | 1 | 0 | 1 | 9 | 0 | 11 | 1 | 0 | 1 | 9 | 0 |
| KI270741.1 | Unplaced|KI270741.1 | 16 | 12 | 1 | 0 | 3 | 0 | 16 | 12 | 1 | 0 | 3 | 0 |
| KI270742.1 | Unplaced|KI270742.1 | 2 | 2 | 0 | 0 | 0 | 0 | 3 | 3 | 0 | 0 | 0 | 0 |
| KI270743.1 | Unplaced|KI270743.1 | 6 | 2 | 1 | 1 | 2 | 0 | 6 | 2 | 1 | 1 | 2 | 0 |
| KI270744.1 | Unplaced|KI270744.1 | 7 | 5 | 0 | 0 | 2 | 0 | 7 | 5 | 0 | 0 | 2 | 0 |
| KI270748.1 | Unplaced|KI270748.1 | 6 | 2 | 0 | 1 | 3 | 0 | 6 | 2 | 0 | 1 | 3 | 0 |
| KI270749.1 | Unplaced|KI270749.1 | 6 | 0 | 1 | 3 | 2 | 0 | 6 | 0 | 1 | 3 | 2 | 0 |
| KI270750.1 | Unplaced|KI270750.1 | 6 | 2 | 1 | 0 | 3 | 0 | 6 | 2 | 1 | 0 | 3 | 0 |
| KI270751.1 | Unplaced|KI270751.1 | 5 | 3 | 0 | 1 | 1 | 0 | 5 | 3 | 0 | 1 | 1 | 0 |
| KI270753.1 | Unplaced|KI270753.1 | 5 | 0 | 0 | 0 | 5 | 0 | 6 | 0 | 0 | 0 | 6 | 0 |
| KI270756.1 | Unplaced|KI270756.1 | 1 | 0 | 0 | 0 | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 |
| NC_000001.11 | Chr1 | 2,202 | 2,089 | 4 | 1 | 69 | 39 | 2,369 | 2,255 | 4 | 1 | 69 | 40 |
| NC_000002.12 | Chr2 | 2,400 | 2,346 | 8 | 2 | 29 | 15 | 2,522 | 2,463 | 8 | 2 | 31 | 18 |
| NC_000003.12 | Chr3 | 1,820 | 1,660 | 11 | 10 | 130 | 9 | 1,958 | 1,796 | 11 | 10 | 131 | 10 |
| NC_000004.12 | Chr4 | 1,955 | 1,921 | 0 | 0 | 23 | 11 | 2,043 | 2,006 | 0 | 0 | 25 | 12 |
| NC_000005.10 | Chr5 | 1,729 | 1,724 | 0 | 0 | 2 | 3 | 1,821 | 1,816 | 0 | 0 | 2 | 3 |
| NC_000006.12 | Chr6 | 1,988 | 1,824 | 10 | 3 | 84 | 67 | 2,148 | 1,975 | 10 | 3 | 89 | 71 |
| NC_000007.14 | Chr7 | 2,127 | 2,016 | 6 | 8 | 31 | 66 | 2,254 | 2,135 | 6 | 8 | 31 | 74 |
| NC_000008.11 | Chr8 | 1,400 | 1,364 | 3 | 3 | 5 | 25 | 1,514 | 1,475 | 3 | 3 | 5 | 28 |
| NC_000009.12 | Chr9 | 1,186 | 1,148 | 1 | 0 | 13 | 24 | 1,294 | 1,253 | 1 | 0 | 14 | 26 |
| NC_000010.11 | Chr10 | 1,616 | 1,484 | 0 | 1 | 71 | 60 | 1,709 | 1,573 | 0 | 1 | 72 | 63 |
| NC_000011.10 | Chr11 | 1,350 | 1,296 | 1 | 1 | 32 | 20 | 1,486 | 1,429 | 1 | 1 | 32 | 23 |
| NC_000012.12 | Chr12 | 1,495 | 1,448 | 0 | 2 | 8 | 37 | 1,601 | 1,552 | 0 | 2 | 8 | 39 |
| NC_000013.11 | Chr13 | 1,190 | 1,180 | 0 | 0 | 10 | 0 | 1,275 | 1,264 | 0 | 0 | 11 | 0 |
| NC_000014.9 | Chr14 | 734 | 699 | 0 | 0 | 3 | 32 | 777 | 742 | 0 | 0 | 3 | 32 |
| NC_000015.10 | Chr15 | 738 | 722 | 0 | 1 | 12 | 3 | 795 | 776 | 0 | 1 | 14 | 4 |
| NC_000016.10 | Chr16 | 1,122 | 1,100 | 0 | 1 | 20 | 1 | 1,186 | 1,164 | 0 | 1 | 20 | 1 |
| NC_000017.11 | Chr17 | 1,763 | 1,638 | 11 | 8 | 64 | 42 | 1,858 | 1,726 | 11 | 8 | 68 | 45 |
| NC_000018.10 | Chr18 | 964 | 950 | 0 | 2 | 12 | 0 | 1,020 | 1,006 | 0 | 2 | 12 | 0 |
| NC_000019.10 | Chr19 | 1,023 | 993 | 1 | 1 | 3 | 25 | 1,094 | 1,059 | 1 | 1 | 4 | 29 |
| NC_000020.11 | Chr20 | 1,106 | 898 | 3 | 2 | 192 | 11 | 1,183 | 971 | 3 | 2 | 195 | 12 |
| NC_000021.9 | Chr21 | 727 | 695 | 0 | 1 | 26 | 5 | 764 | 732 | 0 | 1 | 26 | 5 |
| NC_000022.11 | Chr22 | 645 | 606 | 8 | 4 | 18 | 9 | 695 | 653 | 8 | 4 | 21 | 9 |
| NC_000023.11 | ChrX | 1,409 | 1,137 | 0 | 0 | 38 | 234 | 1,516 | 1,217 | 0 | 0 | 45 | 254 |
Samplesets
Number of Samplesets: 1
- Name:
- Hydatidiform moles
- Description:
- Hydatidiform moles CHM1 and CHM13
- Size:
- 2 (sample data not available)
- Organisms:
- Homo sapiens
- Sampleset Phenotype(s):
- None reported