nsv4398381
- 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:8,588
- DGV: gssvL100166
- dbVar: essv11947154
- dbVar: essv11947155
- dbVar: essv11947156
- dbVar: essv11947157
- dbVar: essv11947158
- dbVar: essv11947159
- dbVar: essv11947160
- dbVar: essv11947161
- dbVar: essv6329656
- dbVar: essv6551509
- dbVar: essv81078
- dbVar: essv9764876
- dbVar: nssv1035146
- dbVar: nssv1035147
- dbVar: nssv1035148
- dbVar: nssv1035149
- dbVar: nssv1035151
- dbVar: nssv2758871
- 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: 141 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 141 SVs from 37 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4398381 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 77,020,322 | 77,021,794 | 77,027,390 | 77,028,909 |
nsv4398381 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 76,316,147 | 76,317,619 | 76,323,215 | 76,324,734 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15736354 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15736354 | Remapped | Perfect | NC_000005.10:g.(77 020322_77021794)_( 77027390_77028909) del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 77,020,322 | 77,021,794 | 77,027,390 | 77,028,909 |
nssv15736354 | Submitted genomic | NC_000005.9:g.(763 16147_76317619)_(7 6323215_76324734)d el | GRCh37 (hg19) | NC_000005.9 | Chr5 | 76,316,147 | 76,317,619 | 76,323,215 | 76,324,734 |