nsv4402476
- 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:343,422
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 743 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 745 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4402476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 175,459,821 | 175,461,719 | 175,803,242 | 175,803,242 |
| nsv4402476 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 175,428,957 | 175,430,855 | 175,772,378 | 175,772,378 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15708027 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15708027 | Remapped | Perfect | NC_000001.11:g.(17 5459821_175461719) _(175803242_175803 242)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 175,459,821 | 175,461,719 | 175,803,242 | 175,803,242 |
| nssv15708027 | Submitted genomic | NC_000001.10:g.(17 5428957_175430855) _(175772378_175772 378)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 175,428,957 | 175,430,855 | 175,772,378 | 175,772,378 |