nsv912729
- Organism: Homo sapiens
- Study:nstd71 (Xu et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:82,983
- 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: 1883 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 1883 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 477 SVs from 25 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv912729 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 14,766,825 | 14,777,465 | 14,845,141 | 14,849,807 |
| nsv912729 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 14,747,471 | 14,758,111 | 14,825,787 | 14,830,453 |
| nsv912729 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 14,695,471 | 14,706,111 | 14,773,787 | 14,778,453 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1523795 | copy number loss | SP54214 | SNP array | SNP genotyping analysis | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1523795 | Remapped | Perfect | NC_000020.11:g.(14 766825_14777465)_( 14845141_14849807) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 14,766,825 | 14,777,465 | 14,845,141 | 14,849,807 |
| nssv1523795 | Remapped | Perfect | NC_000020.10:g.(14 747471_14758111)_( 14825787_14830453) del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 14,747,471 | 14,758,111 | 14,825,787 | 14,830,453 |
| nssv1523795 | Submitted genomic | NC_000020.9:g.(146 95471_14706111)_(1 4773787_14778453)d el | NCBI36 (hg18) | NC_000020.9 | Chr20 | 14,695,471 | 14,706,111 | 14,773,787 | 14,778,453 |