nsv471637
- Organism: Homo sapiens
- Study:nstd32 (Sharp et al. 2005)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:154,373
- Publication(s):Sharp et al. 2005
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: 477 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 477 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv471637 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 47,339,291 | 47,493,663 |
nsv471637 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 47,307,027 | 47,461,399 |
nsv471637 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000006.8 | Chr6 | 47,353,863 | 47,508,235 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv549636 | copy number loss | GM10976 | BAC aCGH | Probe signal intensity | 56 |
nssv549637 | copy number loss | GM10979 | BAC aCGH | Probe signal intensity | 65 |
nssv549638 | copy number loss | GM15732 | BAC aCGH | Probe signal intensity | 56 |
nssv549639 | copy number gain | GM17020A | BAC aCGH | Probe signal intensity | 43 |
nssv549640 | copy number loss | JK776 | BAC aCGH | Probe signal intensity | 50 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv549636 | Remapped | Perfect | NC_000006.12:g.(?_ 47339291)_(4749366 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 47,339,291 | 47,493,663 |
nssv549637 | Remapped | Perfect | NC_000006.12:g.(?_ 47339291)_(4749366 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 47,339,291 | 47,493,663 |
nssv549638 | Remapped | Perfect | NC_000006.12:g.(?_ 47339291)_(4749366 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 47,339,291 | 47,493,663 |
nssv549639 | Remapped | Perfect | NC_000006.12:g.(?_ 47339291)_(4749366 3_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 47,339,291 | 47,493,663 |
nssv549640 | Remapped | Perfect | NC_000006.12:g.(?_ 47339291)_(4749366 3_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 47,339,291 | 47,493,663 |
nssv549636 | Remapped | Perfect | NC_000006.11:g.(?_ 47307027)_(4746139 9_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 47,307,027 | 47,461,399 |
nssv549637 | Remapped | Perfect | NC_000006.11:g.(?_ 47307027)_(4746139 9_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 47,307,027 | 47,461,399 |
nssv549638 | Remapped | Perfect | NC_000006.11:g.(?_ 47307027)_(4746139 9_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 47,307,027 | 47,461,399 |
nssv549639 | Remapped | Perfect | NC_000006.11:g.(?_ 47307027)_(4746139 9_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 47,307,027 | 47,461,399 |
nssv549640 | Remapped | Perfect | NC_000006.11:g.(?_ 47307027)_(4746139 9_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 47,307,027 | 47,461,399 |
nssv549636 | Submitted genomic | NC_000006.8:g.(?_4 7353863)_(47508235 _?)del | NCBI34 (hg16) | NC_000006.8 | Chr6 | 47,353,863 | 47,508,235 | ||
nssv549637 | Submitted genomic | NC_000006.8:g.(?_4 7353863)_(47508235 _?)del | NCBI34 (hg16) | NC_000006.8 | Chr6 | 47,353,863 | 47,508,235 | ||
nssv549638 | Submitted genomic | NC_000006.8:g.(?_4 7353863)_(47508235 _?)del | NCBI34 (hg16) | NC_000006.8 | Chr6 | 47,353,863 | 47,508,235 | ||
nssv549639 | Submitted genomic | NC_000006.8:g.(?_4 7353863)_(47508235 _?)dup | NCBI34 (hg16) | NC_000006.8 | Chr6 | 47,353,863 | 47,508,235 | ||
nssv549640 | Submitted genomic | NC_000006.8:g.(?_4 7353863)_(47508235 _?)del | NCBI34 (hg16) | NC_000006.8 | Chr6 | 47,353,863 | 47,508,235 |