nsv3404747
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89,600
- Publication(s):Audano et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 197 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 378 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3404747 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nsv3404747 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14794438 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14795983 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14796629 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14796695 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14798065 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14799096 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14802078 | duplication | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14803530 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14803819 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14806270 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14808273 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14809391 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14809481 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14810557 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14794438 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14795983 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14796629 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14796695 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14798065 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14799096 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14802078 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14803530 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14803819 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14806270 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14808273 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14809391 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14809481 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14810557 | Submitted genomic | NT_187513.1:g.(954 01_95601)_(185000_ 185200)dup | GRCh38 (hg38) | NT_187513.1 | Unplaced|N T_187513.1 | 95,501 (-100, +100) | 185,100 (-100, +100) | ||
| nssv14794438 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14795983 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14796629 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14796695 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14798065 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14799096 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14802078 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14803530 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14803819 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14806270 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14808273 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14809391 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14809481 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |
| nssv14810557 | Remapped | Perfect | NC_000001.10:g.(14 2876423_142876623) _(142966022_142966 222)dupNC_000001.1 0:g.(142876423_142 876623)_(142966022 _142966222)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 142,876,523 (-100, +100) | 142,966,122 (-100, +100) |