nsv4417815
- 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:45,074
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 279 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 280 SVs from 57 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4417815 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 14,938,693 | 14,942,851 | 14,979,207 | 14,983,766 |
nsv4417815 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 15,091,627 | 15,095,785 | 15,132,141 | 15,136,700 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15708893 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15708893 | Remapped | Perfect | NC_000012.12:g.(14 938693_14942851)_( 14979207_14983766) dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 14,938,693 | 14,942,851 | 14,979,207 | 14,983,766 |
nssv15708893 | Submitted genomic | NC_000012.11:g.(15 091627_15095785)_( 15132141_15136700) dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 15,091,627 | 15,095,785 | 15,132,141 | 15,136,700 |