nsv597980
- 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:961,198
- 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: 3504 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3504 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 973 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv597980 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 45,325,813 | 46,287,010 |
| nsv597980 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 45,325,915 | 46,287,112 |
| nsv597980 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 45,361,672 | 46,322,869 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1029663 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1029663 | Remapped | Perfect | NC_000005.10:g.(?_ 45325813)_(4628701 0_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 45,325,813 | 46,287,010 |
| nssv1029663 | Remapped | Perfect | NC_000005.9:g.(?_4 5325915)_(46287112 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 45,325,915 | 46,287,112 |
| nssv1029663 | Submitted genomic | NC_000005.8:g.(?_4 5361672)_(46322869 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,361,672 | 46,322,869 |