nsv7136980
- 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:2
- Description:NM_004168.4(SDHA):c.1001_1064+5dup 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: 201 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 201 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv7136980 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 233,579 | 233,580 |
| nsv7136980 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 233,694 | 233,695 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18830730 | duplication | Multiple | Multiple | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Uncertain significance | ClinVar | RCV003278322.1, VCV002567084.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18830730 | Submitted genomic | NC_000005.10:g.233 579_233580dup | GRCh38 (hg38) | NC_000005.10 | Chr5 | 233,579 | 233,580 |
| nssv18830730 | Submitted genomic | NC_000005.9:g.2336 94_233695dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 233,694 | 233,695 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18830730 | GRCh37: NC_000005.9:g.233694_233695dup, GRCh38: NC_000005.10:g.233579_233580dup | duplication | germline | Hereditary cancer-predisposing syndrome; Neoplastic Syndromes, Hereditary | Uncertain significance | ClinVar | RCV003278322.1, VCV002567084.1 |