nsv4416168
- 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:5,148
- DGV: gssvL36870
- dbVar: essv5404635
- dbVar: essv5430941
- dbVar: essv5449512
- dbVar: essv5460454
- dbVar: essv5489553
- dbVar: essv5523131
- dbVar: essv5528729
- dbVar: essv5543294
- dbVar: essv5561566
- dbVar: essv5611656
- dbVar: essv5638921
- dbVar: essv5650327
- dbVar: essv5654536
- dbVar: essv5690475
- dbVar: essv5696909
- dbVar: essv5697171
- dbVar: essv5740438
- dbVar: essv5742893
- dbVar: essv5748731
- dbVar: essv5750454
- dbVar: essv5754967
- dbVar: essv5779176
- dbVar: essv5783384
- dbVar: essv5784837
- dbVar: essv5791027
- dbVar: essv5818704
- dbVar: essv5847717
- dbVar: essv5869071
- dbVar: essv5896642
- dbVar: essv5987413
- dbVar: essv5988081
- dbVar: essv5991492
- dbVar: essv5996372
- dbVar: essv6000690
- dbVar: essv6005163
- dbVar: essv6011873
- dbVar: essv6022726
- dbVar: essv6032881
- dbVar: essv6050164
- dbVar: essv6058833
- dbVar: essv6060450
- dbVar: essv6069691
- dbVar: essv6080254
- dbVar: essv6088245
- dbVar: essv6091425
- dbVar: essv6127735
- dbVar: essv6132253
- dbVar: essv6143315
- dbVar: essv6145894
- dbVar: essv6151809
- dbVar: essv6153374
- dbVar: essv6170802
- dbVar: essv6235313
- dbVar: essv6238278
- dbVar: essv6261696
- dbVar: essv6262530
- dbVar: essv6286292
- dbVar: essv6320657
- dbVar: essv6324276
- dbVar: essv6338078
- dbVar: essv6370146
- dbVar: essv6376948
- dbVar: essv6411472
- dbVar: essv6427452
- dbVar: essv6448097
- dbVar: essv6460303
- dbVar: essv6480105
- dbVar: essv6499952
- dbVar: essv6513575
- dbVar: essv6514616
- dbVar: essv6515242
- dbVar: essv6516934
- dbVar: essv6528467
- dbVar: essv6543511
- dbVar: essv6553855
- dbVar: essv6563658
- dbVar: nssv832936
- dbVar: nssv832938
- dbVar: nssv832939
- 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: 206 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 30 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4416168 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 99,171,308 | 99,171,308 | 99,176,455 | 99,176,455 |
nsv4416168 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 99,637,645 | 99,637,645 | 99,642,792 | 99,642,792 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15722026 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15722026 | Remapped | Perfect | NC_000014.9:g.(991 71308_99171308)_(9 9176455_99176455)d el | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 99,171,308 | 99,171,308 | 99,176,455 | 99,176,455 |
nssv15722026 | Submitted genomic | NC_000014.8:g.(996 37645_99637645)_(9 9642792_99642792)d el | GRCh37 (hg19) | NC_000014.8 | Chr14 | 99,637,645 | 99,637,645 | 99,642,792 | 99,642,792 |