nsv4351202
- 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:8,723,310
- Description:GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) AND Phelan-McDermid syndrome
- Publication(s):Phelan et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 34668 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 34838 SVs from 124 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4351202 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 42,020,022 | 50,743,331 |
| nsv4351202 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 42,416,026 | 51,181,759 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606080 | copy number loss | Multiple | Multiple | 22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid Syndrome | Pathogenic | ClinVar | RCV000767745.1, VCV000625737.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15606080 | Remapped | Good | NC_000022.11:g.(?_ 42020022)_(5074333 1_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 42,020,022 | 50,743,331 |
| nssv15606080 | Submitted genomic | NC_000022.10:g.(?_ 42416026)_(5118175 9_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 42,416,026 | 51,181,759 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15606080 | GRCh37: NC_000022.10:g.(?_42416026)_(51181759_?)del | copy number loss | germline | 22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid Syndrome | Pathogenic | ClinVar | RCV000767745.1, VCV000625737.1 |