nsv603837
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:76,633
- Publication(s):Cooper 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: 2435 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2435 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1075 SVs from 32 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv603837 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,332,440 |
nsv603837 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,042,157 |
nsv603837 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,022,244 | 79,098,876 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv1065649 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1065650 | copy number loss | SNP array | SNP genotyping analysis | ||
nssv1154177 | copy number gain | 1780854305_A | SNP array | SNP genotyping analysis | nssv1154684, nssv1156758 |
nssv1154178 | copy number loss | 1780862071_A | SNP array | SNP genotyping analysis | 6 |
nssv1154179 | copy number loss | 1780862095_A | SNP array | SNP genotyping analysis | nssv1176430, nssv1155583, nssv1156669 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1065649 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,332,440 |
nssv1065650 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,332,440 |
nssv1154177 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833244 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,332,440 |
nssv1154178 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,332,440 |
nssv1154179 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7833244 0_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,332,440 |
nssv1065649 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,042,157 |
nssv1065650 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,042,157 |
nssv1154177 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904215 7_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,042,157 |
nssv1154178 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,042,157 |
nssv1154179 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7904215 7_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,042,157 |
nssv1065649 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,876 | ||
nssv1065650 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,876 | ||
nssv1154177 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909887 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,876 | ||
nssv1154178 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,876 | ||
nssv1154179 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7909887 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,098,876 |