nsv3911103
- 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:140,980
- Description:GRCh38/hg38 9p21.1(chr9:28195208-28336187)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: 535 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 541 SVs from 62 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3911103 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 28,195,208 | 28,336,187 |
| nsv3911103 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 28,195,206 | 28,336,185 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15123720 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225209.1, VCV000221726.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123720 | Submitted genomic | NC_000009.12:g.281 95208_28336187del | GRCh38 (hg38) | NC_000009.12 | Chr9 | 28,195,208 | 28,336,187 |
| nssv15123720 | Submitted genomic | NC_000009.11:g.281 95206_28336185del | GRCh37 (hg19) | NC_000009.11 | Chr9 | 28,195,206 | 28,336,185 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15123720 | GRCh37: NC_000009.11:g.28195206_28336185del, GRCh38: NC_000009.12:g.28195208_28336187del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225209.1, VCV000221726.1 | 1 |