nsv7139052
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:67
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: 318 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 300 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7139052 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 509,416 | 509,482 |
| nsv7139052 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_017363817.1 | Chr17|NW_0 17363817.1 | 68,893 | 68,959 |
| nsv7139052 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 412,656 | 412,722 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18832845 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18832845 | Remapped | Perfect | NW_017363817.1:g.6 8893_68959del | GRCh38.p12 | Second Pass | NW_017363817.1 | Chr17|NW_0 17363817.1 | 68,893 | 68,959 |
| nssv18832845 | Remapped | Perfect | NC_000017.11:g.509 416_509482del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 509,416 | 509,482 |
| nssv18832845 | Submitted genomic | NC_000017.10:g.412 656_412722del | GRCh37.p13 | NC_000017.10 | Chr17 | 412,656 | 412,722 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18832845 | 0.5 | 2 | 4 |