nsv3916643
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:169,098
- Description:
See descriptions for individual calls in download files - Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1207 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 1207 SVs from 93 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3916643 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 136,675,987 | 136,845,084 |
| nsv3916643 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 137,688,230 | 137,857,327 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15123716 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225200.1, VCV000221723.1 | 1 |
| nssv15123851 | copy number loss | Multiple | Multiple | Normal pregnancy | not provided | ClinVar | RCV000161554.1, VCV000221723.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15123716 | Submitted genomic | NC_000008.11:g.136 675987_136845084de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 136,675,987 | 136,845,084 |
| nssv15123851 | Submitted genomic | NC_000008.11:g.136 675987_136845084de l | GRCh38 (hg38) | NC_000008.11 | Chr8 | 136,675,987 | 136,845,084 |
| nssv15123716 | Submitted genomic | NC_000008.10:g.137 688230_137857327de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,688,230 | 137,857,327 |
| nssv15123851 | Submitted genomic | NC_000008.10:g.137 688230_137857327de l | GRCh37 (hg19) | NC_000008.10 | Chr8 | 137,688,230 | 137,857,327 |
No validation data were submitted for this variant
Clinical Assertions There exist variant calls with the same type and copy number with different clinical interpretation.
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15123716 | GRCh37: NC_000008.10:g.137688230_137857327del, GRCh38: NC_000008.11:g.136675987_136845084del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225200.1, VCV000221723.1 | 1 |
| nssv15123851 | GRCh37: NC_000008.10:g.137688230_137857327del, GRCh38: NC_000008.11:g.136675987_136845084del | copy number loss | unknown | Normal pregnancy | not provided | ClinVar | RCV000161554.1, VCV000221723.1 | 1 |