nsv4413343
- 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:243,585
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 898 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 898 SVs from 70 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4413343 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 101,006,279 | 101,057,880 | 101,247,537 | 101,249,863 |
| nsv4413343 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 101,472,616 | 101,524,217 | 101,713,874 | 101,716,200 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15707563 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15707563 | Remapped | Perfect | NC_000014.9:g.(101 006279_101057880)_ (101247537_1012498 63)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 101,006,279 | 101,057,880 | 101,247,537 | 101,249,863 |
| nssv15707563 | Submitted genomic | NC_000014.8:g.(101 472616_101524217)_ (101713874_1017162 00)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 101,472,616 | 101,524,217 | 101,713,874 | 101,716,200 |