nsv3923528
- 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:14,984,011
- Description:GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)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: 35107 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 34710 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 8891 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923528 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 83,838,303 | 98,822,313 |
| nsv3923528 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 84,548,022 | 99,270,189 |
| nsv3923528 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 84,604,741 | 99,376,910 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133711 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135773.4, VCV000146487.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133711 | Submitted genomic | NC_000006.12:g.(?_ 83838303)_(9882231 3_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 83,838,303 | 98,822,313 |
| nssv15133711 | Submitted genomic | NC_000006.11:g.(?_ 84548022)_(9927018 9_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 84,548,022 | 99,270,189 |
| nssv15133711 | Submitted genomic | NC_000006.10:g.(?_ 84604741)_(9937691 0_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 84,604,741 | 99,376,910 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133711 | GRCh37: NC_000006.11:g.(?_84548022)_(99270189_?)del, GRCh38: NC_000006.12:g.(?_83838303)_(98822313_?)del, NCBI36: NC_000006.10:g.(?_84604741)_(99376910_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135773.4, VCV000146487.2 | 1 |