nsv832519
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:222,523
- Publication(s):Wong 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: 734 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 734 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 55 SVs from 4 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv832519 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 114,758,743 | 114,981,265 |
nsv832519 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 115,196,548 | 115,419,070 |
nsv832519 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 113,659,268 | 113,881,790 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv1450012 | copy number loss | BAC aCGH | Probe signal intensity |
nssv1450013 | copy number loss | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv1450012 | Remapped | Perfect | NC_000012.12:g.(11 4758743_?)_(?_1149 81265)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 114,758,743 | 114,981,265 |
nssv1450013 | Remapped | Perfect | NC_000012.12:g.(11 4758743_?)_(?_1149 81265)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 114,758,743 | 114,981,265 |
nssv1450012 | Remapped | Perfect | NC_000012.11:g.(11 5196548_?)_(?_1154 19070)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 115,196,548 | 115,419,070 |
nssv1450013 | Remapped | Perfect | NC_000012.11:g.(11 5196548_?)_(?_1154 19070)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 115,196,548 | 115,419,070 |
nssv1450012 | Submitted genomic | NC_000012.9:g.(113 659268_?)_(?_11388 1790)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 113,659,268 | 113,881,790 | ||
nssv1450013 | Submitted genomic | NC_000012.9:g.(113 659268_?)_(?_11388 1790)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 113,659,268 | 113,881,790 |