nsv4729808
- 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:615,867
- Description:
GRCh37/hg19 20p13(chr20:61568-677437)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: 2520 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2520 SVs from 96 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4729808 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 80,927 | 696,793 |
nsv4729808 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,568 | 677,437 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16254000 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001258750.1, VCV000979574.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16254000 | Remapped | Perfect | NC_000020.11:g.(?_ 80927)_(696793_?)d el | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 80,927 | 696,793 |
nssv16254000 | Submitted genomic | NC_000020.10:g.(?_ 61568)_(677437_?)d el | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,568 | 677,437 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16254000 | GRCh37: NC_000020.10:g.(?_61568)_(677437_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001258750.1, VCV000979574.1 | 1 |