nsv4393912
- 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:3,547
- DGV: gssvL128417
- dbVar: essv13369027
- dbVar: essv13369028
- dbVar: essv13369029
- dbVar: essv13369030
- dbVar: essv13369031
- dbVar: essv13369032
- dbVar: essv13369033
- dbVar: essv13369034
- dbVar: essv13369035
- dbVar: essv13369036
- dbVar: essv38943
- dbVar: essv5438384
- dbVar: essv5750164
- dbVar: essv6586149
- dbVar: essv9743148
- dbVar: nssv1125811
- dbVar: nssv1125812
- dbVar: nssv1125813
- dbVar: nssv1125814
- dbVar: nssv1125816
- 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: 509 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 508 SVs from 52 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4393912 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 144,492,309 | 144,492,547 | 144,495,685 | 144,495,855 |
nsv4393912 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 145,717,692 | 145,717,930 | 145,721,068 | 145,721,238 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv15743466 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15743466 | Remapped | Perfect | NC_000008.11:g.(14 4492309_144492547) _(144495685_144495 855)del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 144,492,309 | 144,492,547 | 144,495,685 | 144,495,855 |
nssv15743466 | Submitted genomic | NC_000008.10:g.(14 5717692_145717930) _(145721068_145721 238)del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 145,717,692 | 145,717,930 | 145,721,068 | 145,721,238 |