nsv483120
- 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:147,121
- 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: 476 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 476 SVs from 66 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 |
---|---|---|---|---|---|---|---|---|---|
nsv483120 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 83,591,137 | 83,738,257 |
nsv483120 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 83,220,453 | 83,367,573 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv2996140 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv2996140 | Remapped | Perfect | NC_000007.14:g.(?_ 83591137)_(8373825 7_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 83,591,137 | 83,738,257 |
nssv2996140 | Submitted genomic | NC_000007.13:g.(?_ 83220453)_(8336757 3_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 83,220,453 | 83,367,573 |