nsv6315321
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:17,950,846
- Description:
Single allele AND Interstitial 6q microdeletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 40408 SVs from 131 studies. See in: genome view
Overlapping variant regions from other studies: 40411 SVs from 131 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315321 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 115,941,808 | 133,892,653 | ||
| nsv6315321 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 116,262,971 | 134,213,791 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976930 | deletion | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV002280353.3, VCV001703230.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976930 | Submitted genomic | NC_000006.12:g.115 941808_133892653de l | GRCh38 (hg38) | NC_000006.12 | Chr6 | 115,941,808 | 133,892,653 | ||
| nssv17976930 | Remapped | Perfect | NC_000006.11:g.116 262971_134213791de l | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 116,262,971 | 134,213,791 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976930 | GRCh38: NC_000006.12:g.115941808_133892653del | deletion | germline | See cases | Pathogenic | ClinVar | RCV002280353.3, VCV001703230.1 |