nsv6291738
- 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:1,139,799
- Description:GRCh37/hg19 20q13.33(chr20:61775756-62915555)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: 7499 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 7501 SVs from 110 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6291738 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 63,144,404 | 64,284,202 |
| nsv6291738 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 61,775,756 | 62,915,555 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17956222 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834246.1, VCV001340670.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17956222 | Remapped | Perfect | NC_000020.11:g.(?_ 63144404)_(6428420 2_?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 63,144,404 | 64,284,202 |
| nssv17956222 | Submitted genomic | NC_000020.10:g.(?_ 61775756)_(6291555 5_?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 61,775,756 | 62,915,555 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17956222 | GRCh37: NC_000020.10:g.(?_61775756)_(62915555_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001834246.1, VCV001340670.1 | 1 |