nsv4419282
- 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:444,153
- DGV: gssvG6880
- dbVar: nssv1893762
- dbVar: nssv1893763
- dbVar: nssv1893764
- dbVar: nssv1893765
- dbVar: nssv1893766
- dbVar: nssv1893767
- dbVar: nssv1893768
- dbVar: nssv1893769
- dbVar: nssv1893770
- dbVar: nssv1893771
- dbVar: nssv3507512
- dbVar: nssv3508313
- dbVar: nssv3508865
- dbVar: nssv3509098
- dbVar: nssv3509890
- dbVar: nssv3510794
- dbVar: nssv3511304
- dbVar: nssv3512607
- dbVar: nssv3512619
- dbVar: nssv3514506
- dbVar: nssv3514891
- dbVar: nssv3515113
- dbVar: nssv3515449
- dbVar: nssv3516014
- dbVar: nssv3516887
- dbVar: nssv3518495
- dbVar: nssv3518879
- dbVar: nssv3519189
- dbVar: nssv3519774
- dbVar: nssv3521397
- dbVar: nssv3521720
- dbVar: nssv3521724
- dbVar: nssv3710612
- dbVar: nssv3710613
- dbVar: nssv3710614
- dbVar: nssv3710615
- dbVar: nssv3710616
- dbVar: nssv3710617
- dbVar: nssv3710618
- dbVar: nssv3710619
- dbVar: nssv3710620
- dbVar: nssv3710621
- dbVar: nssv3710622
- dbVar: nssv3710623
- dbVar: nssv3710626
- dbVar: nssv3710627
- dbVar: nssv3710628
- dbVar: nssv3710629
- dbVar: nssv3710630
- dbVar: nssv3710631
- dbVar: nssv3710632
- dbVar: nssv3710633
- dbVar: nssv778608
- dbVar: nssv778610
- 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: 1583 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1579 SVs from 101 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4419282 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 67,552,445 | 67,681,018 | 67,988,648 | 67,996,597 |
nsv4419282 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 67,319,916 | 67,448,489 | 67,756,119 | 67,764,068 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15708759 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15708759 | Remapped | Perfect | NC_000011.10:g.(67 552445_67681018)_( 67988648_67996597) dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 67,552,445 | 67,681,018 | 67,988,648 | 67,996,597 |
nssv15708759 | Submitted genomic | NC_000011.9:g.(673 19916_67448489)_(6 7756119_67764068)d up | GRCh37 (hg19) | NC_000011.9 | Chr11 | 67,319,916 | 67,448,489 | 67,756,119 | 67,764,068 |