nsv4657991
- Organism: Homo sapiens
- Study:nstd185 (Puig et al. 2020)
- Variant Type:copy number variation
- Method Type:ddPCR
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,969
- Publication(s):Puig et al. 2020
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: 279 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 279 SVs from 72 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4657991 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000016.10 | Chr16 | 20,501,378 | 20,522,346 | ||
| nsv4657991 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 20,512,700 | 20,533,668 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181389 | deletion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181389 | Submitted genomic | NC_000016.10:g.(?_ 20501378)_(2052234 6_?)del | GRCh38.p13 | NC_000016.10 | Chr16 | 20,501,378 | 20,522,346 | ||
| nssv16181389 | Remapped | Perfect | NC_000016.9:g.(?_2 0512700)_(20533668 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 20,512,700 | 20,533,668 |