nsv3902905
- 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:307,674
- Description:GRCh37/hg19 14q31.1(chr14:82380158-82687831)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 813 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 813 SVs from 77 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3902905 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 81,913,814 | 82,221,487 |
nsv3902905 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 82,380,158 | 82,687,831 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15160237 | copy number loss | Multiple | Multiple | not provided | Benign | ClinVar | RCV000738556.2, VCV000601920.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15160237 | Remapped | Perfect | NC_000014.9:g.(?_8 1913814)_(82221487 _?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 81,913,814 | 82,221,487 |
nssv15160237 | Submitted genomic | NC_000014.8:g.(?_8 2380158)_(82687831 _?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 82,380,158 | 82,687,831 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15160237 | GRCh37: NC_000014.8:g.(?_82380158)_(82687831_?)del | copy number loss | unknown | not provided | Benign | ClinVar | RCV000738556.2, VCV000601920.2 | 1 |