nsv4393342
- 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:7,188
- DGV: gssvL3458
- dbVar: essv59741
- dbVar: essv6344353
- dbVar: essv6374048
- dbVar: essv6589485
- dbVar: essv7005591
- dbVar: essv9980933
- dbVar: essv9980934
- dbVar: essv9980935
- dbVar: essv9980936
- dbVar: essv9980937
- dbVar: essv9980938
- dbVar: essv9980939
- dbVar: essv9980940
- dbVar: essv9980941
- dbVar: essv9980942
- dbVar: essv9980943
- dbVar: essv9980944
- dbVar: essv9980945
- dbVar: essv9980946
- dbVar: essv9980947
- dbVar: essv9980948
- dbVar: essv9980949
- dbVar: essv9980950
- dbVar: essv9980951
- dbVar: nssv1656678
- dbVar: nssv1656679
- dbVar: nssv1656680
- dbVar: nssv1656681
- 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: 188 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 43 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4393342 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 77,308,728 | 77,308,829 | 77,315,907 | 77,315,915 |
nsv4393342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 77,774,413 | 77,774,514 | 77,781,592 | 77,781,600 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15714351 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15714351 | Remapped | Perfect | NC_000001.11:g.(77 308728_77308829)_( 77315907_77315915) del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 77,308,728 | 77,308,829 | 77,315,907 | 77,315,915 |
nssv15714351 | Submitted genomic | NC_000001.10:g.(77 774413_77774514)_( 77781592_77781600) del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 77,774,413 | 77,774,514 | 77,781,592 | 77,781,600 |