nsv4416653
- Organism: Homo sapiens
- Study:nstd174 (DGV Gold Standard)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,051
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 179 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4416653 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 103,182,402 | 103,182,504 | 103,185,362 | 103,185,452 |
| nsv4416653 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 103,648,739 | 103,648,841 | 103,651,699 | 103,651,789 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15722199 | copy number loss | Multiple | Multiple |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15722199 | Remapped | Perfect | NC_000014.9:g.(103 182402_103182504)_ (103185362_1031854 52)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 103,182,402 | 103,182,504 | 103,185,362 | 103,185,452 |
| nssv15722199 | Submitted genomic | NC_000014.8:g.(103 648739_103648841)_ (103651699_1036517 89)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 103,648,739 | 103,648,841 | 103,651,699 | 103,651,789 |