nsv3910706
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:126,428
- Description:GRCh38/hg38 14q21.2(chr14:46083651-46210078)x1 AND Premature ovarian failure
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 537 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 537 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3910706 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 46,083,651 | 46,210,078 |
| nsv3910706 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 46,552,854 | 46,679,281 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15123273 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225220.1, VCV000221749.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123273 | Submitted genomic | NC_000014.9:g.4608 3651_46210078del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 46,083,651 | 46,210,078 |
| nssv15123273 | Submitted genomic | NC_000014.8:g.4655 2854_46679281del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 46,552,854 | 46,679,281 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15123273 | GRCh37: NC_000014.8:g.46552854_46679281del, GRCh38: NC_000014.9:g.46083651_46210078del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225220.1, VCV000221749.1 | 1 |