nsv557464
- 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:31,520
- 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: 554 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 555 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 26 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv557464 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 10,417,572 | 10,449,091 |
| nsv557464 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 10,570,171 | 10,601,690 |
| nsv557464 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 10,461,438 | 10,492,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv788024 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv788024 | Remapped | Perfect | NC_000012.12:g.(?_ 10417572)_(1044909 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 10,417,572 | 10,449,091 |
| nssv788024 | Remapped | Perfect | NC_000012.11:g.(?_ 10570171)_(1060169 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 10,570,171 | 10,601,690 |
| nssv788024 | Submitted genomic | NC_000012.10:g.(?_ 10461438)_(1049295 7_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 10,461,438 | 10,492,957 |