nsv6314777
- 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:1,619,057
- 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: 3902 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 3902 SVs from 112 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 |
---|---|---|---|---|---|---|---|---|---|
nsv6314777 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 110,718,642 | 112,337,698 |
nsv6314777 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 111,476,219 | 113,095,275 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17976217 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv17976217 | Remapped | Perfect | NC_000002.12:g.(11 0718642_?)_(?_1123 37698)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,718,642 | 112,337,698 |
nssv17976217 | Submitted genomic | NC_000002.11:g.(11 1476219_?)_(?_1130 95275)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 111,476,219 | 113,095,275 |