nsv6309331
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:2,214,020
- Description:NC_000013.10:g.99162946_101376965del AND Lobar holoprosencephaly
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 6367 SVs from 99 studies. See in: genome view
Overlapping variant regions from other studies: 6367 SVs from 99 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6309331 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 98,510,692 | 100,724,711 |
| nsv6309331 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 99,162,946 | 101,376,965 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17974068 | deletion | Multiple | Multiple | Lobar holoprosencephaly; Lobar holoprosencephaly | Pathogenic | ClinVar | RCV001847319.1, VCV001275753.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17974068 | Remapped | Perfect | NC_000013.11:g.985 10692_100724711del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 98,510,692 | 100,724,711 |
| nssv17974068 | Submitted genomic | NC_000013.10:g.991 62946_101376965del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 99,162,946 | 101,376,965 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17974068 | GRCh37: NC_000013.10:g.99162946_101376965del | deletion | germline | Lobar holoprosencephaly; Lobar holoprosencephaly | Pathogenic | ClinVar | RCV001847319.1, VCV001275753.1 |