nsv3922487
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:383,307
- Description:GRCh38/hg38 6q22.31(chr6:124116341-124499647)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: 1200 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1201 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922487 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 124,116,341 | 124,499,647 |
| nsv3922487 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 124,437,486 | 124,820,793 |
| nsv3922487 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 124,479,185 | 124,862,492 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121089 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052198.5, VCV000058444.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121089 | Submitted genomic | NC_000006.12:g.(?_ 124116341)_(124499 647_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 124,116,341 | 124,499,647 |
| nssv15121089 | Submitted genomic | NC_000006.11:g.(?_ 124437486)_(124820 793_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 124,437,486 | 124,820,793 |
| nssv15121089 | Submitted genomic | NC_000006.10:g.(?_ 124479185)_(124862 492_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 124,479,185 | 124,862,492 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121089 | GRCh37: NC_000006.11:g.(?_124437486)_(124820793_?)del, GRCh38: NC_000006.12:g.(?_124116341)_(124499647_?)del, NCBI36: NC_000006.10:g.(?_124479185)_(124862492_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV000052198.5, VCV000058444.1 | 1 |