nsv4399498
- 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:7,318
- DGV: gssvL1107
- dbVar: essv6100111
- dbVar: essv6530617
- dbVar: essv6731930
- dbVar: essv6761854
- dbVar: essv6801154
- dbVar: essv9864698
- dbVar: essv9864699
- dbVar: essv9864700
- dbVar: essv9864701
- dbVar: essv9864702
- dbVar: essv9864703
- dbVar: essv9864704
- dbVar: essv9864705
- dbVar: nssv1422361
- dbVar: nssv1428817
- dbVar: nssv1439448
- Overlapping Genes
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: 182 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 42 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4399498 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 15,859,319 | 15,859,322 | 15,866,611 | 15,866,636 |
nsv4399498 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 16,185,814 | 16,185,817 | 16,193,106 | 16,193,131 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15713580 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15713580 | Remapped | Perfect | NC_000001.11:g.(15 859319_15859322)_( 15866611_15866636) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 15,859,319 | 15,859,322 | 15,866,611 | 15,866,636 |
nssv15713580 | Submitted genomic | NC_000001.10:g.(16 185814_16185817)_( 16193106_16193131) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 16,185,814 | 16,185,817 | 16,193,106 | 16,193,131 |