nsv3917679
- 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:4,950,654
- Description:GRCh38/hg38 14q32.31-32.33(chr14:101925670-106876323)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: 33473 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 31139 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 12401 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917679 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 101,925,670 | 106,876,323 |
| nsv3917679 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 102,392,007 | 107,284,531 |
| nsv3917679 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 101,461,760 | 106,355,576 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161557 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139633.5, VCV000150835.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161557 | Submitted genomic | NC_000014.9:g.(?_1 01925670)_(1068763 23_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 101,925,670 | 106,876,323 |
| nssv15161557 | Submitted genomic | NC_000014.8:g.(?_1 02392007)_(1072845 31_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 102,392,007 | 107,284,531 |
| nssv15161557 | Submitted genomic | NC_000014.7:g.(?_1 01461760)_(1063555 76_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 101,461,760 | 106,355,576 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161557 | GRCh37: NC_000014.8:g.(?_102392007)_(107284531_?)del, GRCh38: NC_000014.9:g.(?_101925670)_(106876323_?)del, NCBI36: NC_000014.7:g.(?_101461760)_(106355576_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139633.5, VCV000150835.2 | 1 |