nsv4401209
- 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:215,581
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 988 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 988 SVs from 79 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4401209 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 52,753,073 | 52,802,439 | 52,946,128 | 52,968,653 |
nsv4401209 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 53,665,633 | 53,714,999 | 53,858,688 | 53,881,213 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15713030 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15713030 | Remapped | Perfect | NC_000008.11:g.(52 753073_52802439)_( 52946128_52968653) dup | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 52,753,073 | 52,802,439 | 52,946,128 | 52,968,653 |
nssv15713030 | Submitted genomic | NC_000008.10:g.(53 665633_53714999)_( 53858688_53881213) dup | GRCh37 (hg19) | NC_000008.10 | Chr8 | 53,665,633 | 53,714,999 | 53,858,688 | 53,881,213 |