nsv4397316
- 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:68,163
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 286 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 286 SVs from 56 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4397316 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 70,988,502 | 70,988,502 | 71,045,014 | 71,056,664 |
nsv4397316 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 71,215,632 | 71,215,632 | 71,272,144 | 71,283,794 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15710465 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15710465 | Remapped | Perfect | NC_000002.12:g.(70 988502_70988502)_( 71045014_71056664) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 70,988,502 | 70,988,502 | 71,045,014 | 71,056,664 |
nssv15710465 | Submitted genomic | NC_000002.11:g.(71 215632_71215632)_( 71272144_71283794) dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 71,215,632 | 71,215,632 | 71,272,144 | 71,283,794 |