nsv4457784
- 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:1,466,678
- Description:GRCh37/hg19 20p12.3(chr20:7106288-8572965)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: 4186 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 4187 SVs from 99 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4457784 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 7,125,641 | 8,592,318 |
| nsv4457784 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 7,106,288 | 8,572,965 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15775704 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000847804.2, VCV000687096.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15775704 | Remapped | Perfect | NC_000020.11:g.(?_ 7125641)_(8592318_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 7,125,641 | 8,592,318 |
| nssv15775704 | Submitted genomic | NC_000020.10:g.(?_ 7106288)_(8572965_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 7,106,288 | 8,572,965 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15775704 | GRCh37: NC_000020.10:g.(?_7106288)_(8572965_?)del | copy number loss | unknown | not provided | Uncertain significance | ClinVar | RCV000847804.2, VCV000687096.2 | 1 |