nsv6314781
- 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:6,383,446
- 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: 24576 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 24578 SVs from 127 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6314781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 181,774,580 | 188,158,025 |
nsv6314781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 182,695,733 | 189,079,179 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17976204 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17976204 | Remapped | Perfect | NC_000004.12:g.(18 1774580_?)_(?_1881 58025)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 181,774,580 | 188,158,025 |
nssv17976204 | Submitted genomic | NC_000004.11:g.(18 2695733_?)_(?_1890 79179)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 182,695,733 | 189,079,179 |