nsv6314792
- Organism: Homo sapiens
- Study:nstd220 (Chen et al. 2022)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,297,210
- Publication(s):Chen et al. 2022
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: 4053 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 4053 SVs from 108 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6314792 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 14,257,916 | 15,555,125 |
nsv6314792 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 14,161,233 | 15,458,439 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17976205 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17976205 | Remapped | Perfect | NC_000017.11:g.(14 257916_?)_(?_15555 125)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 14,257,916 | 15,555,125 |
nssv17976205 | Submitted genomic | NC_000017.10:g.(14 161233_?)_(?_15458 439)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 14,161,233 | 15,458,439 |