nsv3922376
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:286,590
- Description:GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1062 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1062 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 254 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922376 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 7,210,345 | 7,496,934 |
| nsv3922376 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,113,664 | 7,400,253 |
| nsv3922376 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 7,054,388 | 7,340,977 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132968 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053425.4, VCV000059582.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132968 | Submitted genomic | NC_000017.11:g.(?_ 7210345)_(7496934_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 7,210,345 | 7,496,934 |
| nssv15132968 | Submitted genomic | NC_000017.10:g.(?_ 7113664)_(7400253_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,113,664 | 7,400,253 |
| nssv15132968 | Submitted genomic | NC_000017.9:g.(?_7 054388)_(7340977_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 7,054,388 | 7,340,977 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132968 | GRCh37: NC_000017.10:g.(?_7113664)_(7400253_?)del, GRCh38: NC_000017.11:g.(?_7210345)_(7496934_?)del, NCBI36: NC_000017.9:g.(?_7054388)_(7340977_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053425.4, VCV000059582.1 | 1 |