nsv4436731
- 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:12,090,103
- Description:GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 31709 SVs from 128 studies. See in: genome view
Overlapping variant regions from other studies: 31709 SVs from 128 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 79,561,246 | 91,651,348 |
| nsv4436731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 80,482,400 | 92,572,499 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15755704 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000790579.1, VCV000638111.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15755704 | Remapped | Perfect | NC_000004.12:g.(?_ 79561246)_(9165134 8_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 79,561,246 | 91,651,348 |
| nssv15755704 | Submitted genomic | NC_000004.11:g.(?_ 80482400)_(9257249 9_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 80,482,400 | 92,572,499 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15755704 | GRCh37: NC_000004.11:g.(?_80482400)_(92572499_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000790579.1, VCV000638111.1 | 1 |