nsv4423600
- 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:1,857
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: 324 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 324 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4423600 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 52,312,780 | 52,312,923 | 52,314,335 | 52,314,636 |
| nsv4423600 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 52,706,564 | 52,706,707 | 52,708,119 | 52,708,420 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15709048 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15709048 | Remapped | Perfect | NC_000012.12:g.(52 312780_52312923)_( 52314335_52314636) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 52,312,780 | 52,312,923 | 52,314,335 | 52,314,636 |
| nssv15709048 | Submitted genomic | NC_000012.11:g.(52 706564_52706707)_( 52708119_52708420) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 52,706,564 | 52,706,707 | 52,708,119 | 52,708,420 |