nsv3920683
- 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:23,122,822
- Description:GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)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: 51853 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 51859 SVs from 134 studies. See in: genome view
Overlapping variant regions from other studies: 12777 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920683 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 108,944,899 | 132,067,720 |
| nsv3920683 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 109,266,102 | 132,388,860 |
| nsv3920683 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 109,372,795 | 132,430,553 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146226 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051196.6, VCV000057486.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146226 | Submitted genomic | NC_000006.12:g.(?_ 108944899)_(132067 720_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 108,944,899 | 132,067,720 |
| nssv15146226 | Submitted genomic | NC_000006.11:g.(?_ 109266102)_(132388 860_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 109,266,102 | 132,388,860 |
| nssv15146226 | Submitted genomic | NC_000006.10:g.(?_ 109372795)_(132430 553_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 109,372,795 | 132,430,553 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146226 | GRCh37: NC_000006.11:g.(?_109266102)_(132388860_?)del, GRCh38: NC_000006.12:g.(?_108944899)_(132067720_?)del, NCBI36: NC_000006.10:g.(?_109372795)_(132430553_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051196.6, VCV000057486.1 | 1 |