nsv5980375
- 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:78
- Description:NM_001122630.2(CDKN1C):c.519_596del (p.Ala180_Pro205del) AND Beckwith-Wiedemann syndrome
- Publication(s):Del Gaudio et al. 2020, Dome et al. 2003, Mussa et al. 2015, Shuman 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: 113 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv5980375 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 2,884,861 | 2,884,938 |
| nsv5980375 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 2,906,091 | 2,906,168 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17517499 | deletion | Multiple | Multiple | BECKWITH-WIEDEMANN SYNDROME; BWS; Beckwith-Wiedemann Syndrome; Beckwith-Wiedemann syndrome; Beckwith-Wiedemann syndrome | Likely benign | ClinVar | RCV001480236.5, VCV001142432.5 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17517499 | Submitted genomic | NC_000011.10:g.288 4861_2884938del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 2,884,861 | 2,884,938 |
| nssv17517499 | Submitted genomic | NC_000011.9:g.2906 091_2906168del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 2,906,091 | 2,906,168 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17517499 | GRCh37: NC_000011.9:g.2906091_2906168del, GRCh38: NC_000011.10:g.2884861_2884938del | deletion | germline | BECKWITH-WIEDEMANN SYNDROME; BWS; Beckwith-Wiedemann Syndrome; Beckwith-Wiedemann syndrome; Beckwith-Wiedemann syndrome | Likely benign | ClinVar | RCV001480236.5, VCV001142432.5 |