nsv3910578
- 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:252,691
- Description:
GRCh38/hg38 6q13(chr6:71845502-72098192)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: 644 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 644 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910578 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 71,845,502 | 72,098,192 |
| nsv3910578 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 72,555,205 | 72,807,895 |
| nsv3910578 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 72,611,926 | 72,864,616 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133992 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000135861.4, VCV000146598.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133992 | Submitted genomic | NC_000006.12:g.(?_ 71845502)_(7209819 2_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 71,845,502 | 72,098,192 |
| nssv15133992 | Submitted genomic | NC_000006.11:g.(?_ 72555205)_(7280789 5_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 72,555,205 | 72,807,895 |
| nssv15133992 | Submitted genomic | NC_000006.10:g.(?_ 72611926)_(7286461 6_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 72,611,926 | 72,864,616 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133992 | GRCh37: NC_000006.11:g.(?_72555205)_(72807895_?)del, GRCh38: NC_000006.12:g.(?_71845502)_(72098192_?)del, NCBI36: NC_000006.10:g.(?_72611926)_(72864616_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000135861.4, VCV000146598.2 | 1 |