nsv3910589
- 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:268,180
- Description:GRCh38/hg38 7q11.23(chr7:76659716-76927895)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: 1540 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 1537 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3910589 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 76,659,716 | 76,927,895 |
| nsv3910589 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,289,033 | 76,557,212 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122596 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225338.1, VCV000221716.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122596 | Submitted genomic | NC_000007.14:g.766 59716_76927895del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 76,659,716 | 76,927,895 |
| nssv15122596 | Submitted genomic | NC_000007.13:g.762 89033_76557212del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,289,033 | 76,557,212 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122596 | GRCh37: NC_000007.13:g.76289033_76557212del, GRCh38: NC_000007.14:g.76659716_76927895del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225338.1, VCV000221716.1 | 1 |