nsv4419621
- 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:296,068
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 957 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 956 SVs from 65 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4419621 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 52,485,035 | 52,486,914 | 52,740,074 | 52,781,102 |
| nsv4419621 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 50,859 | 50,859 | 246,895 | - |
| nsv4419621 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 50,562,395 | 50,564,274 | 50,817,434 | 50,858,462 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15725096 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15725096 | Remapped | Pass | NW_017363818.1:g.( 50859_50859)_(2468 95_?)del | GRCh38.p12 | Second Pass | NW_017363818.1 | Chr17|NW_0 17363818.1 | 50,859 | 50,859 | 246,895 | - |
| nssv15725096 | Remapped | Perfect | NC_000017.11:g.(52 485035_52486914)_( 52740074_52781102) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 52,485,035 | 52,486,914 | 52,740,074 | 52,781,102 |
| nssv15725096 | Submitted genomic | NC_000017.10:g.(50 562395_50564274)_( 50817434_50858462) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 50,562,395 | 50,564,274 | 50,817,434 | 50,858,462 |