nsv4674402
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:8,638
- Description:GRCh37/hg19 4q31.3(chr4:154316483-154325120) 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: 118 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4674402 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 153,395,331 | 153,403,968 |
nsv4674402 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 154,316,483 | 154,325,120 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv16206490 | copy number loss | Multiple | Multiple | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Likely pathogenic | ClinVar | RCV001002728.1, VCV000812128.1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16206490 | Remapped | Perfect | NC_000004.12:g.153 395331_153403968de l | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 153,395,331 | 153,403,968 |
nssv16206490 | Submitted genomic | NC_000004.11:g.154 316483_154325120de l | GRCh37 (hg19) | NC_000004.11 | Chr4 | 154,316,483 | 154,325,120 |
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 |
---|---|---|---|---|---|---|---|
nssv16206490 | GRCh37: NC_000004.11:g.154316483_154325120del | copy number loss | see ClinVar for details | PREMATURE OVARIAN FAILURE 1; POF1; Premature ovarian failure; Premature ovarian failure | Likely pathogenic | ClinVar | RCV001002728.1, VCV000812128.1 |