nsv469792
- Organism: Homo sapiens
- Study:nstd29 (Locke et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,716
- Publication(s):Locke et al. 2006
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: 1116 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1117 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
---|---|---|---|---|---|---|---|---|---|
nsv469792 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 442,040 | 592,755 |
nsv469792 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 483,723 | 634,438 |
nsv469792 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000003.8 | Chr3 | 458,723 | 609,438 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1673409 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv1673409 | Remapped | Perfect | NC_000003.12:g.(?_ 442040)_(592755_?) dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 442,040 | 592,755 |
nssv1673409 | Remapped | Perfect | NC_000003.11:g.(?_ 483723)_(634438_?) dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 483,723 | 634,438 |
nssv1673409 | Submitted genomic | NC_000003.8:g.(?_4 58723)_(609438_?)d up | NCBI34 (hg16) | NC_000003.8 | Chr3 | 458,723 | 609,438 |