nsv469710
- 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:149,437
- 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: 525 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 525 SVs from 57 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 |
---|---|---|---|---|---|---|---|---|---|
nsv469710 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 123,553,131 | 123,702,567 |
nsv469710 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 124,474,286 | 124,623,722 |
nsv469710 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000004.8 | Chr4 | 124,933,107 | 125,082,543 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1673188 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv1673188 | Remapped | Perfect | NC_000004.12:g.(?_ 123553131)_(123702 567_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 123,553,131 | 123,702,567 |
nssv1673188 | Remapped | Perfect | NC_000004.11:g.(?_ 124474286)_(124623 722_?)dup | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 124,474,286 | 124,623,722 |
nssv1673188 | Submitted genomic | NC_000004.8:g.(?_1 24933107)_(1250825 43_?)dup | NCBI34 (hg16) | NC_000004.8 | Chr4 | 124,933,107 | 125,082,543 |