nsv548577
- 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:525,664
- 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: 1532 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 1532 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 431 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv548577 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 191,226,670 | 191,752,333 |
| nsv548577 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 191,195,800 | 191,721,463 |
| nsv548577 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 189,462,423 | 189,988,086 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv732591 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv732591 | Remapped | Perfect | NC_000001.11:g.(?_ 191226670)_(191752 333_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 191,226,670 | 191,752,333 |
| nssv732591 | Remapped | Perfect | NC_000001.10:g.(?_ 191195800)_(191721 463_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 191,195,800 | 191,721,463 |
| nssv732591 | Submitted genomic | NC_000001.9:g.(?_1 89462423)_(1899880 86_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 189,462,423 | 189,988,086 |