nsv3910994
- 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:120,502
- Description:GRCh38/hg38 12q21.1(chr12:72849677-72970178)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: 462 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 462 SVs from 59 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3910994 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 72,849,677 | 72,970,178 |
| nsv3910994 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 73,243,456 | 73,363,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122576 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225270.1, VCV000221744.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122576 | Submitted genomic | NC_000012.12:g.728 49677_72970178del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 72,849,677 | 72,970,178 |
| nssv15122576 | Submitted genomic | NC_000012.11:g.732 43456_73363957del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 73,243,456 | 73,363,957 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122576 | GRCh37: NC_000012.11:g.73243456_73363957del, GRCh38: NC_000012.12:g.72849677_72970178del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225270.1, VCV000221744.1 | 1 |