nsv883774
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:31,511
- 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: 1736 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 789 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 1736 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 789 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 763 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv883774 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 29,897,941 | 29,900,276 | 29,928,644 | 29,929,419 |
nsv883774 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,154,274 | 1,154,274 | 1,185,784 | 1,185,784 |
nsv883774 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 29,865,718 | 29,868,053 | 29,896,421 | 29,897,196 |
nsv883774 | Remapped | Good | GRCh37.p13 | ALT_REF_LOCI_4 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,159,894 | 1,159,894 | 1,191,404 | 1,191,404 |
nsv883774 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 29,973,697 | 29,976,032 | 30,004,400 | 30,005,175 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv1529114 | copy number loss | SP81454 | SNP array | SNP genotyping analysis | 17 |
nssv1558776 | copy number gain | MS23532 | SNP array | SNP genotyping analysis | nssv1558774, nssv1558777, nssv1558775 |
nssv1595242 | copy number loss | IS40192 | SNP array | SNP genotyping analysis | 11 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv1529114 | Remapped | Good | NT_167246.2:g.(115 4274_1154274)_(118 5784_1185784)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,154,274 | 1,154,274 | 1,185,784 | 1,185,784 |
nssv1558776 | Remapped | Good | NT_167246.2:g.(115 4274_1154274)_(118 5784_1185784)dup | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,154,274 | 1,154,274 | 1,185,784 | 1,185,784 |
nssv1595242 | Remapped | Good | NT_167246.2:g.(115 4274_1154274)_(118 5784_1185784)del | GRCh38.p12 | Second Pass | NT_167246.2 | Chr6|NT_16 7246.2 | 1,154,274 | 1,154,274 | 1,185,784 | 1,185,784 |
nssv1529114 | Remapped | Perfect | NC_000006.12:g.(29 897941_29900276)_( 29928644_29929419) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,897,941 | 29,900,276 | 29,928,644 | 29,929,419 |
nssv1558776 | Remapped | Perfect | NC_000006.12:g.(29 897941_29900276)_( 29928644_29929419) dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,897,941 | 29,900,276 | 29,928,644 | 29,929,419 |
nssv1595242 | Remapped | Perfect | NC_000006.12:g.(29 897941_29900276)_( 29928644_29929419) del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 29,897,941 | 29,900,276 | 29,928,644 | 29,929,419 |
nssv1529114 | Remapped | Good | NT_167246.1:g.(115 9894_1159894)_(119 1404_1191404)delNT _167246.1:g.(11598 94_1159894)_(11914 04_1191404)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,159,894 | 1,159,894 | 1,191,404 | 1,191,404 |
nssv1558776 | Remapped | Good | NT_167246.1:g.(115 9894_1159894)_(119 1404_1191404)dupNT _167246.1:g.(11598 94_1159894)_(11914 04_1191404)dup | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,159,894 | 1,159,894 | 1,191,404 | 1,191,404 |
nssv1595242 | Remapped | Good | NT_167246.1:g.(115 9894_1159894)_(119 1404_1191404)delNT _167246.1:g.(11598 94_1159894)_(11914 04_1191404)del | GRCh37.p13 | Second Pass | NT_167246.1 | Chr6|NT_16 7246.1 | 1,159,894 | 1,159,894 | 1,191,404 | 1,191,404 |
nssv1529114 | Remapped | Perfect | NC_000006.11:g.(29 865718_29868053)_( 29896421_29897196) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,865,718 | 29,868,053 | 29,896,421 | 29,897,196 |
nssv1558776 | Remapped | Perfect | NC_000006.11:g.(29 865718_29868053)_( 29896421_29897196) dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,865,718 | 29,868,053 | 29,896,421 | 29,897,196 |
nssv1595242 | Remapped | Perfect | NC_000006.11:g.(29 865718_29868053)_( 29896421_29897196) del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 29,865,718 | 29,868,053 | 29,896,421 | 29,897,196 |
nssv1529114 | Submitted genomic | NC_000006.10:g.(29 973697_29976032)_( 30004400_30005175) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 29,973,697 | 29,976,032 | 30,004,400 | 30,005,175 | ||
nssv1558776 | Submitted genomic | NC_000006.10:g.(29 973697_29976032)_( 30004400_30005175) dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 29,973,697 | 29,976,032 | 30,004,400 | 30,005,175 | ||
nssv1595242 | Submitted genomic | NC_000006.10:g.(29 973697_29976032)_( 30004400_30005175) del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 29,973,697 | 29,976,032 | 30,004,400 | 30,005,175 |