nsv6634527
- 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:158
- Description:NM_024675.4(PALB2):c.9_48+118del AND Hereditary cancer-predisposing syndrome
- Publication(s):Hampel et al. 2014
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 48 SVs from 18 studies. See in: genome view
Overlapping variant regions from other studies: 48 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 |
|---|---|---|---|---|---|---|---|
| nsv6634527 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 23,640,992 | 23,641,149 |
| nsv6634527 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 23,652,313 | 23,652,470 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18326492 | deletion | Multiple | Multiple | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Likely pathogenic | ClinVar | RCV002376351.1, VCV001765428.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18326492 | Submitted genomic | NC_000016.10:g.236 40992_23641149del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 23,640,992 | 23,641,149 |
| nssv18326492 | Submitted genomic | NC_000016.9:g.2365 2313_23652470del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 23,652,313 | 23,652,470 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18326492 | GRCh37: NC_000016.9:g.23652313_23652470del, GRCh38: NC_000016.10:g.23640992_23641149del | deletion | germline | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Likely pathogenic | ClinVar | RCV002376351.1, VCV001765428.1 |