nsv548053
- Organism: Homo sapiens
- Study:nstd54 (Cooper 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:22,894
- 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: 162 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 166 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 12 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv548053 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 159,915,710 | 159,938,603 |
| nsv548053 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 159,885,500 | 159,908,393 |
| nsv548053 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 158,152,124 | 158,175,017 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv727671 | copy number loss | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv727671 | Remapped | Perfect | NC_000001.11:g.(?_ 159915710)_(159938 603_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 159,915,710 | 159,938,603 |
| nssv727671 | Remapped | Perfect | NC_000001.10:g.(?_ 159885500)_(159908 393_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 159,885,500 | 159,908,393 |
| nssv727671 | Submitted genomic | NC_000001.9:g.(?_1 58152124)_(1581750 17_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 158,152,124 | 158,175,017 |