nsv832344
- Organism: Homo sapiens
- Study:nstd68 (Wong et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:214,779
- 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: 703 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 704 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv832344 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 18,138,275 | 18,353,053 |
| nsv832344 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 18,291,209 | 18,505,987 |
| nsv832344 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 18,182,476 | 18,397,254 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1449705 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1449705 | Remapped | Perfect | NC_000012.12:g.(18 138275_?)_(?_18353 053)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 18,138,275 | 18,353,053 |
| nssv1449705 | Remapped | Perfect | NC_000012.11:g.(18 291209_?)_(?_18505 987)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 18,291,209 | 18,505,987 |
| nssv1449705 | Submitted genomic | NC_000012.9:g.(181 82476_?)_(?_183972 54)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 18,182,476 | 18,397,254 |