nsv4457373
- 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:187,320
- Description:GRCh37/hg19 20q13.11-13.12(chr20:42087848-42275167)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: 718 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 718 SVs from 67 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4457373 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 43,459,208 | 43,646,527 |
nsv4457373 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 42,087,848 | 42,275,167 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15775934 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848260.2, VCV000687561.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15775934 | Remapped | Perfect | NC_000020.11:g.(?_ 43459208)_(4364652 7_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 43,459,208 | 43,646,527 |
nssv15775934 | Submitted genomic | NC_000020.10:g.(?_ 42087848)_(4227516 7_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 42,087,848 | 42,275,167 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15775934 | GRCh37: NC_000020.10:g.(?_42087848)_(42275167_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000848260.2, VCV000687561.2 | 1 |