nsv3917551
- 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:148,395
- Description:GRCh38/hg38 3p14.2(chr3:60103588-60251982)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: 621 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 625 SVs from 66 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nsv3917551 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 60,103,588 | 60,251,982 |
nsv3917551 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 60,089,314 | 60,237,710 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15122598 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225342.1, VCV000221696.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|
nssv15122598 | Submitted genomic | NC_000003.12:g.601 03588_60251982del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 60,103,588 | 60,251,982 |
nssv15122598 | Submitted genomic | NC_000003.11:g.600 89314_60237710del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 60,089,314 | 60,237,710 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15122598 | GRCh37: NC_000003.11:g.60089314_60237710del, GRCh38: NC_000003.12:g.60103588_60251982del | copy number loss | unknown | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Benign | ClinVar | RCV000225342.1, VCV000221696.1 | 1 |