nsv4397930
- 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:78,967
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 340 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 340 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4397930 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 46,440,967 | 46,441,932 | 46,517,689 | 46,519,933 |
| nsv4397930 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 46,668,106 | 46,669,071 | 46,744,828 | 46,747,072 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15727996 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15727996 | Remapped | Perfect | NC_000002.12:g.(46 440967_46441932)_( 46517689_46519933) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 46,440,967 | 46,441,932 | 46,517,689 | 46,519,933 |
| nssv15727996 | Submitted genomic | NC_000002.11:g.(46 668106_46669071)_( 46744828_46747072) del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 46,668,106 | 46,669,071 | 46,744,828 | 46,747,072 |