nsv5672807
- 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:11,340,382
- Description:NC_000013.10:g.(?_92002837)_(103343314_?)del AND Holoprosencephaly 5
- Publication(s):Solomon et al. 2000
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 29076 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 29081 SVs from 120 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672807 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 91,350,583 | 102,690,964 |
| nsv5672807 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 92,002,837 | 103,343,314 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17173205 | deletion | Multiple | Multiple | HOLOPROSENCEPHALY 5; HPE5; Holoprosencephaly; Holoprosencephaly 5; Holoprosencephaly Overview | Pathogenic | ClinVar | RCV001388033.1, VCV001074668.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173205 | Remapped | Good | NC_000013.11:g.(?_ 91350583)_(1026909 64_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 91,350,583 | 102,690,964 |
| nssv17173205 | Submitted genomic | NC_000013.10:g.(?_ 92002837)_(1033433 14_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 92,002,837 | 103,343,314 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17173205 | GRCh37: NC_000013.10:g.(?_92002837)_(103343314_?)del | deletion | germline | HOLOPROSENCEPHALY 5; HPE5; Holoprosencephaly; Holoprosencephaly 5; Holoprosencephaly Overview | Pathogenic | ClinVar | RCV001388033.1, VCV001074668.1 |