nsv483094
- 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:177,982
- 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: 696 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 696 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv483094 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 101,960,725 | 102,138,706 |
| nsv483094 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 101,604,005 | 101,781,986 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv2996374 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv2996374 | Remapped | Perfect | NC_000007.14:g.(?_ 101960725)_(102138 706_?)dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 101,960,725 | 102,138,706 |
| nssv2996374 | Submitted genomic | NC_000007.13:g.(?_ 101604005)_(101781 986_?)dup | GRCh37 (hg19) | NC_000007.13 | Chr7 | 101,604,005 | 101,781,986 |