nsv4357849
- 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:7,994,840
- Description:GRCh37/hg19 20q13.2-13.33(chr20:54143747-62194881) 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: 27727 SVs from 123 studies. See in: genome view
Overlapping variant regions from other studies: 27690 SVs from 123 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4357849 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 55,568,689 | 63,563,528 |
| nsv4357849 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 54,143,747 | 62,194,881 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15605863 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000767669.1, VCV000625661.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15605863 | Remapped | Good | NC_000020.11:g.(?_ 55568689)_(6356352 8_?)dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 55,568,689 | 63,563,528 |
| nssv15605863 | Submitted genomic | NC_000020.10:g.(?_ 54143747)_(6219488 1_?)dup | GRCh37 (hg19) | NC_000020.10 | Chr20 | 54,143,747 | 62,194,881 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15605863 | GRCh37: NC_000020.10:g.(?_54143747)_(62194881_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV000767669.1, VCV000625661.1 |