nsv6313559
- 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:17,432,280
- Description:GRCh37/hg19 4p15.31-14(chr4:19892850-37325128) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 49349 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 49336 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6313559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 19,891,227 | 37,323,506 |
| nsv6313559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 19,892,850 | 37,325,128 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969937 | copy number loss | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002053409.3, VCV001527077.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969937 | Remapped | Perfect | NC_000004.12:g.(?_ 19891227)_(3732350 6_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 19,891,227 | 37,323,506 |
| nssv17969937 | Submitted genomic | NC_000004.11:g.(?_ 19892850)_(3732512 8_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 19,892,850 | 37,325,128 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969937 | GRCh37: NC_000004.11:g.(?_19892850)_(37325128_?)del | copy number loss | germline | not specified | Pathogenic | ClinVar | RCV002053409.3, VCV001527077.3 |