nsv4685978
- 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:2,239,449
- Description:NC_000022.11:g.48500337_50739785del 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: 11679 SVs from 113 studies. See in: genome view
Overlapping variant regions from other studies: 11606 SVs from 113 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685978 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000022.11 | Chr22 | 48,500,337 | 50,739,785 | ||
| nsv4685978 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000022.10 | Chr22 | 48,896,149 | 51,178,213 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216903 | deletion | Multiple | Multiple | 22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid Syndrome | Pathogenic | ClinVar | RCV001254365.4, VCV000976871.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216903 | Submitted genomic | NC_000022.11:g.485 00337_50739785del | GRCh38 (hg38) | NC_000022.11 | Chr22 | 48,500,337 | 50,739,785 | ||
| nssv16216903 | Remapped | Good | NC_000022.10:g.488 96149_51178213del | GRCh37.p13 | First Pass | NC_000022.10 | Chr22 | 48,896,149 | 51,178,213 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216903 | GRCh38: NC_000022.11:g.48500337_50739785del | deletion | unknown | 22q13.3 deletion syndrome; Monosomy 22q13; PHELAN-MCDERMID SYNDROME; PHMDS; Phelan-McDermid Syndrome | Pathogenic | ClinVar | RCV001254365.4, VCV000976871.3 |