nsv3921137
- 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:2,598,422
- Description:GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)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: 5728 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 5728 SVs from 97 studies. See in: genome view
Overlapping variant regions from other studies: 1535 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921137 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 98,668,529 | 101,266,950 |
| nsv3921137 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 99,116,405 | 101,714,826 |
| nsv3921137 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 99,223,126 | 101,821,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15120617 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052194.5, VCV000058440.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15120617 | Submitted genomic | NC_000006.12:g.(?_ 98668529)_(1012669 50_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 98,668,529 | 101,266,950 |
| nssv15120617 | Submitted genomic | NC_000006.11:g.(?_ 99116405)_(1017148 26_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 99,116,405 | 101,714,826 |
| nssv15120617 | Submitted genomic | NC_000006.10:g.(?_ 99223126)_(1018215 47_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 99,223,126 | 101,821,547 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15120617 | GRCh37: NC_000006.11:g.(?_99116405)_(101714826_?)del, GRCh38: NC_000006.12:g.(?_98668529)_(101266950_?)del, NCBI36: NC_000006.10:g.(?_99223126)_(101821547_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000052194.5, VCV000058440.1 | 1 |