nsv7148281
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:982,599
- Description:GRCh38/hg38 22q13.33(chr22:49757859-50740457)x1 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: 5137 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 5110 SVs from 101 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148281 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 49,757,859 | 50,740,457 | ||
| nsv7148281 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 50,151,507 | 51,178,885 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842030 | copy number loss | Multiple | Multiple | 22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid Syndrome | Pathogenic | ClinVar | RCV003327722.2, VCV002579283.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842030 | Submitted genomic | NC_000022.11:g.497 57859_50740457del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 49,757,859 | 50,740,457 | ||
| nssv18842030 | Remapped | Good | NC_000022.10:g.501 51507_51178885del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 50,151,507 | 51,178,885 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842030 | GRCh38: NC_000022.11:g.49757859_50740457del | copy number loss | de novo | 22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid Syndrome | Pathogenic | ClinVar | RCV003327722.2, VCV002579283.1 | 1 |