nsv1027486
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,221,322
- Publication(s):Coe et al. 2014
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: 3629 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1496 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 518 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1027486 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000009.12 | Chr9 | 65,490,251 | 67,711,572 |
| nsv1027486 | Remapped | Pass | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 44,993,286 | 45,749,096 |
| nsv1027486 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000009.10 | Chr9 | 44,933,282 | 45,639,092 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3696866 | copy number gain | SNP array | Probe signal intensity |
| nssv3761519 | copy number loss | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3696866 | Remapped | Pass | NC_000009.12:g.(?_ 65490251)_(6771157 2_?)dup | GRCh38.p12 | Second Pass | NC_000009.12 | Chr9 | 65,490,251 | 67,711,572 |
| nssv3761519 | Remapped | Pass | NC_000009.12:g.(?_ 65490251)_(6771157 2_?)del | GRCh38.p12 | Second Pass | NC_000009.12 | Chr9 | 65,490,251 | 67,711,572 |
| nssv3696866 | Remapped | Pass | NC_000009.11:g.(?_ 44993286)_(4574909 6_?)dup | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,993,286 | 45,749,096 |
| nssv3761519 | Remapped | Pass | NC_000009.11:g.(?_ 44993286)_(4574909 6_?)del | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 44,993,286 | 45,749,096 |
| nssv3696866 | Submitted genomic | NC_000009.10:g.(?_ 44933282)_(4563909 2_?)dup | NCBI36 (hg18) | NC_000009.10 | Chr9 | 44,933,282 | 45,639,092 | ||
| nssv3761519 | Submitted genomic | NC_000009.10:g.(?_ 44933282)_(4563909 2_?)del | NCBI36 (hg18) | NC_000009.10 | Chr9 | 44,933,282 | 45,639,092 |