nsv4683405
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,828
- Description:
NM_032383.5(HPS3):c.218-808_719del AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 84 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv4683405 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 149,139,194 | 149,141,021 |
| nsv4683405 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 148,856,981 | 148,858,808 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212928 | deletion | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001038157.1, VCV000836931.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv16212928 | Submitted genomic | NC_000003.12:g.149 139194_149141021de l | GRCh38 (hg38) | NC_000003.12 | Chr3 | 149,139,194 | 149,141,021 |
| nssv16212928 | Submitted genomic | NC_000003.11:g.148 856981_148858808de l | GRCh37 (hg19) | NC_000003.11 | Chr3 | 148,856,981 | 148,858,808 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212928 | GRCh37: NC_000003.11:g.148856981_148858808del, GRCh38: NC_000003.12:g.149139194_149141021del | deletion | germline | not provided | Likely pathogenic | ClinVar | RCV001038157.1, VCV000836931.1 |