nsv4416499
- 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:295,853
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1044 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1044 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4416499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 129,938,574 | 129,963,186 | 130,211,449 | 130,234,426 |
| nsv4416499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 130,423,119 | 130,447,731 | 130,695,994 | 130,718,971 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15709083 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15709083 | Remapped | Perfect | NC_000012.12:g.(12 9938574_129963186) _(130211449_130234 426)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 129,938,574 | 129,963,186 | 130,211,449 | 130,234,426 |
| nssv15709083 | Submitted genomic | NC_000012.11:g.(13 0423119_130447731) _(130695994_130718 971)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 130,423,119 | 130,447,731 | 130,695,994 | 130,718,971 |