nsv4404690
- 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:617,521
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2013 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2013 SVs from 89 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4404690 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 52,389,530 | 52,409,465 | 53,002,217 | 53,007,050 |
nsv4404690 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 53,302,090 | 53,322,025 | 53,914,777 | 53,919,610 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15713027 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15713027 | Remapped | Perfect | NC_000008.11:g.(52 389530_52409465)_( 53002217_53007050) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 52,389,530 | 52,409,465 | 53,002,217 | 53,007,050 |
nssv15713027 | Submitted genomic | NC_000008.10:g.(53 302090_53322025)_( 53914777_53919610) dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 53,302,090 | 53,322,025 | 53,914,777 | 53,919,610 |