nsv442110
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:10,520
- Publication(s):McCarroll et al. 2008
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: 227 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv442110 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 64,334,427 | 64,344,946 |
| nsv442110 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 65,246,984 | 65,257,503 |
| nsv442110 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000008.9 | Chr8 | 65,409,538 | 65,420,057 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1658676 | copy number loss | NA18517 | SNP array | Probe signal intensity | 1 | 151 |
| nssv1658677 | copy number loss | NA18856 | SNP array | Probe signal intensity | 1 | 188 |
| nssv1658678 | copy number loss | NA18857 | SNP array | Probe signal intensity | 1 | 176 |
| nssv1658679 | copy number loss | NA18871 | SNP array | Probe signal intensity | 1 | 174 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1658676 | Remapped | Perfect | NC_000008.11:g.(?_ 64334427)_(6434494 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 64,334,427 | 64,344,946 |
| nssv1658677 | Remapped | Perfect | NC_000008.11:g.(?_ 64334427)_(6434494 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 64,334,427 | 64,344,946 |
| nssv1658678 | Remapped | Perfect | NC_000008.11:g.(?_ 64334427)_(6434494 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 64,334,427 | 64,344,946 |
| nssv1658679 | Remapped | Perfect | NC_000008.11:g.(?_ 64334427)_(6434494 6_?)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 64,334,427 | 64,344,946 |
| nssv1658676 | Remapped | Perfect | NC_000008.10:g.(?_ 65246984)_(6525750 3_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 65,246,984 | 65,257,503 |
| nssv1658677 | Remapped | Perfect | NC_000008.10:g.(?_ 65246984)_(6525750 3_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 65,246,984 | 65,257,503 |
| nssv1658678 | Remapped | Perfect | NC_000008.10:g.(?_ 65246984)_(6525750 3_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 65,246,984 | 65,257,503 |
| nssv1658679 | Remapped | Perfect | NC_000008.10:g.(?_ 65246984)_(6525750 3_?)del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 65,246,984 | 65,257,503 |
| nssv1658676 | Submitted genomic | NC_000008.9:g.(?_6 5409538)_(65420057 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 65,409,538 | 65,420,057 | ||
| nssv1658677 | Submitted genomic | NC_000008.9:g.(?_6 5409538)_(65420057 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 65,409,538 | 65,420,057 | ||
| nssv1658678 | Submitted genomic | NC_000008.9:g.(?_6 5409538)_(65420057 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 65,409,538 | 65,420,057 | ||
| nssv1658679 | Submitted genomic | NC_000008.9:g.(?_6 5409538)_(65420057 _?)del | NCBI35 (hg17) | NC_000008.9 | Chr8 | 65,409,538 | 65,420,057 |