nsv3911444
- 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:237,158
- Description:GRCh38/hg38 6q13(chr6:72988135-73225292)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: 655 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 655 SVs from 58 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3911444 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 72,988,135 | 73,225,292 |
| nsv3911444 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 73,697,858 | 73,935,015 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15125225 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Uncertain significance | ClinVar | RCV000225210.1, VCV000221709.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15125225 | Submitted genomic | NC_000006.12:g.729 88135_73225292del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 72,988,135 | 73,225,292 |
| nssv15125225 | Submitted genomic | NC_000006.11:g.736 97858_73935015del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 73,697,858 | 73,935,015 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15125225 | GRCh37: NC_000006.11:g.73697858_73935015del, GRCh38: NC_000006.12:g.72988135_73225292del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Uncertain significance | ClinVar | RCV000225210.1, VCV000221709.1 | 1 |