nsv883847
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,908
- Publication(s):Xu et al. 2011
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: 1610 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 735 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1610 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 735 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 693 SVs from 31 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv883847 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,904,765 | 29,905,273 | 29,927,451 | 29,928,644 |
nsv883847 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,161,099 | 1,161,099 | 1,185,006 | 1,185,006 |
nsv883847 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 29,872,542 | 29,873,050 | 29,895,228 | 29,896,421 |
nsv883847 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,166,719 | 1,166,719 | 1,190,626 | 1,190,626 |
nsv883847 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 29,980,521 | 29,981,029 | 30,003,207 | 30,004,400 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv1549472 | copy number gain | MS18248 | SNP array | SNP genotyping analysis | 12 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv1549472 | Remapped | Good | NT_167246.2:g.(116 1099_1161099)_(118 5006_1185006)dup | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,161,099 | 1,161,099 | 1,185,006 | 1,185,006 |
nssv1549472 | Remapped | Perfect | NC_000006.12:g.(29 904765_29905273)_( 29927451_29928644) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,904,765 | 29,905,273 | 29,927,451 | 29,928,644 |
nssv1549472 | Remapped | Good | NT_167246.1:g.(116 6719_1166719)_(119 0626_1190626)dupNT _167246.1:g.(11667 19_1166719)_(11906 26_1190626)dup | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,166,719 | 1,166,719 | 1,190,626 | 1,190,626 |
nssv1549472 | Remapped | Perfect | NC_000006.11:g.(29 872542_29873050)_( 29895228_29896421) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,872,542 | 29,873,050 | 29,895,228 | 29,896,421 |
nssv1549472 | Submitted genomic | NC_000006.10:g.(29 980521_29981029)_( 30003207_30004400) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 29,980,521 | 29,981,029 | 30,003,207 | 30,004,400 |