nsv483113
- Organism: Homo sapiens
- Study:nstd41 (Iafrate et al. 2004)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:163,187
- Publication(s):Iafrate et al. 2004
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: 420 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv483113 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 165,903,344 | 166,066,530 |
| nsv483113 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 165,330,349 | 165,493,535 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2996341 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2996341 | Remapped | Perfect | NC_000005.10:g.(?_ 165903344)_(166066 530_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 165,903,344 | 166,066,530 |
| nssv2996341 | Submitted genomic | NC_000005.9:g.(?_1 65330349)_(1654935 35_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 165,330,349 | 165,493,535 |