nsv6290728
- 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:159,972
- Description:GRCh37/hg19 6p22.2(chr6:26008259-26168230)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: 497 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 497 SVs from 66 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290728 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 26,008,031 | 26,168,002 |
| nsv6290728 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 26,008,259 | 26,168,230 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17957216 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001834493.1, VCV001341201.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17957216 | Remapped | Perfect | NC_000006.12:g.(?_ 26008031)_(2616800 2_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 26,008,031 | 26,168,002 |
| nssv17957216 | Submitted genomic | NC_000006.11:g.(?_ 26008259)_(2616823 0_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 26,008,259 | 26,168,230 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17957216 | GRCh37: NC_000006.11:g.(?_26008259)_(26168230_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001834493.1, VCV001341201.1 | 1 |