nsv4394901
- 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:255,433
- DGV: gssvG26156
- dbVar: essv35045
- dbVar: essv35893
- dbVar: essv68023
- dbVar: essv7027735
- dbVar: essv7027736
- dbVar: nssv2296655
- dbVar: nssv2296656
- dbVar: nssv2296657
- dbVar: nssv2296658
- dbVar: nssv2296659
- dbVar: nssv2296660
- dbVar: nssv2296661
- dbVar: nssv2296662
- dbVar: nssv2296663
- dbVar: nssv2296664
- dbVar: nssv3602804
- dbVar: nssv3602805
- dbVar: nssv3602806
- dbVar: nssv3603023
- dbVar: nssv3603024
- dbVar: nssv3603025
- dbVar: nssv3603539
- dbVar: nssv3603558
- dbVar: nssv3603559
- dbVar: nssv3603576
- dbVar: nssv3603603
- dbVar: nssv3603635
- dbVar: nssv3603636
- dbVar: nssv3603637
- dbVar: nssv3603638
- dbVar: nssv3603759
- dbVar: nssv3603760
- dbVar: nssv3603883
- dbVar: nssv3603884
- dbVar: nssv3603885
- dbVar: nssv3603886
- dbVar: nssv3603887
- dbVar: nssv3603888
- dbVar: nssv3603889
- dbVar: nssv3603891
- dbVar: nssv3603893
- dbVar: nssv3603894
- dbVar: nssv3734353
- dbVar: nssv3734354
- dbVar: nssv3734355
- dbVar: nssv3735913
- dbVar: nssv3735914
- dbVar: nssv3736421
- dbVar: nssv3736435
- dbVar: nssv3736436
- dbVar: nssv3736437
- dbVar: nssv3736438
- dbVar: nssv3736439
- dbVar: nssv3736440
- dbVar: nssv3736441
- dbVar: nssv3736442
- dbVar: nssv3736443
- dbVar: nssv3736444
- dbVar: nssv3736796
- dbVar: nssv3741384
- dbVar: nssv463242
- 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: 1370 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1370 SVs from 90 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4394901 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 129,957,739 | 130,009,512 | 130,210,488 | 130,213,171 |
nsv4394901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 129,676,582 | 129,728,355 | 129,929,331 | 129,932,014 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15711276 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15711276 | Remapped | Perfect | NC_000003.12:g.(12 9957739_130009512) _(130210488_130213 171)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 129,957,739 | 130,009,512 | 130,210,488 | 130,213,171 |
nssv15711276 | Submitted genomic | NC_000003.11:g.(12 9676582_129728355) _(129929331_129932 014)dup | GRCh37 (hg19) | NC_000003.11 | Chr3 | 129,676,582 | 129,728,355 | 129,929,331 | 129,932,014 |