nsv512359
- Organism: Homo sapiens
- Study:nstd50 (Arlt et al. 2011)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,800
- Publication(s):Arlt et al. 2011
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: 683 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 683 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 341 SVs from 26 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 |
---|---|---|---|---|---|---|---|---|---|
nsv512359 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 41,138,716 | 41,200,515 |
nsv512359 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 41,607,919 | 41,669,718 |
nsv512359 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 40,677,669 | 40,739,468 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv624945 | copy number loss | 1 | Sequencing | Paired-end mapping | 2,637 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv624945 | Remapped | Perfect | NC_000014.9:g.(411 38716_?)_(?_412005 15)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 41,138,716 | 41,200,515 |
nssv624945 | Remapped | Perfect | NC_000014.8:g.(416 07919_?)_(?_416697 18)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 41,607,919 | 41,669,718 |
nssv624945 | Submitted genomic | NC_000014.7:g.(406 77669_?)_(?_407394 68)del61800 | NCBI36 (hg18) | NC_000014.7 | Chr14 | 40,677,669 | 40,739,468 |