nsv4418323
- 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:306,836
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 870 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 871 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4418323 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 17,861,685 | 17,903,323 | 18,137,085 | 18,168,520 |
| nsv4418323 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 18,014,619 | 18,056,257 | 18,290,019 | 18,321,454 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15719023 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15719023 | Remapped | Perfect | NC_000012.12:g.(17 861685_17903323)_( 18137085_18168520) del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 17,861,685 | 17,903,323 | 18,137,085 | 18,168,520 |
| nssv15719023 | Submitted genomic | NC_000012.11:g.(18 014619_18056257)_( 18290019_18321454) del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 18,014,619 | 18,056,257 | 18,290,019 | 18,321,454 |