nsv4396469
- 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:278,966
- DGV: gssvL115959
- dbVar: essv5671348
- dbVar: essv6990825
- dbVar: essv6990826
- dbVar: essv6990827
- dbVar: essv6990829
- dbVar: essv7014718
- dbVar: essv7014719
- dbVar: essv7014720
- dbVar: essv7014721
- dbVar: nssv3661582
- dbVar: nssv3661584
- dbVar: nssv3661585
- dbVar: nssv3661586
- dbVar: nssv3661587
- dbVar: nssv3661588
- dbVar: nssv3661589
- dbVar: nssv3661590
- dbVar: nssv3661591
- dbVar: nssv3661592
- dbVar: nssv3661593
- dbVar: nssv3661594
- dbVar: nssv3661595
- dbVar: nssv3661596
- dbVar: nssv3661597
- dbVar: nssv3661598
- dbVar: nssv3661599
- dbVar: nssv3661600
- dbVar: nssv3661601
- dbVar: nssv3752991
- dbVar: nssv3752992
- dbVar: nssv3752993
- 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: 61 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 2426 SVs from 97 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4396469 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | - | 331,933 | 610,898 | - |
nsv4396469 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 61,665,938 | 61,665,938 | 61,839,403 | 61,888,128 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15740490 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15740490 | Remapped | Pass | NT_187383.1:g.(?_3 31933)_(610898_?)d el | GRCh38.p12 | Second Pass | NT_187383.1 | Chr16|NT_1 87383.1 | - | 331,933 | 610,898 | - |
nssv15740490 | Submitted genomic | NC_000007.13:g.(61 665938_61665938)_( 61839403_61888128) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 61,665,938 | 61,665,938 | 61,839,403 | 61,888,128 |