nsv547174
- 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:95,957
- 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: 1294 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1294 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 699 SVs from 24 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv547174 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 103,660,666 | 103,756,622 |
| nsv547174 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 104,203,288 | 104,299,244 |
| nsv547174 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 104,004,811 | 104,100,767 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv720155 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv720155 | Remapped | Perfect | NC_000001.11:g.(?_ 103660666)_(103756 622_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 103,660,666 | 103,756,622 |
| nssv720155 | Remapped | Perfect | NC_000001.10:g.(?_ 104203288)_(104299 244_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 104,203,288 | 104,299,244 |
| nssv720155 | Submitted genomic | NC_000001.9:g.(?_1 04004811)_(1041007 67_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 104,004,811 | 104,100,767 |