nsv3170330
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:
- Submitted on:GRCh37 (hg19)
- Variant Calls:0
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,912,336
- Description:
Xp11.22p11.23 recurrent region (includes SHROOM4) - Publication(s):Edens et al. 2011, Giorda et al. 2009, Nizon et al. 2014, Riggs et al. 2011
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4148 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 4100 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170330 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 48,447,780 | 52,360,115 |
| nsv3170330 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 48,306,152 | 52,103,258 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv14252555 | copy number gain | Curated | Curated | CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252555 | Remapped | Good | NC_000023.11:g.(?_ 48447780)_(5236011 5_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 48,447,780 | 52,360,115 |
| nssv14252555 | Submitted genomic | NC_000023.10:g.(?_ 48306152)_(5210325 8_?)dup | GRCh37 (hg19) | NC_000023.10 | ChrX | 48,306,152 | 52,103,258 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv14252555 | GRCh37: NC_000023.10:g.(?_48306152)_(52103258_?)dup | copy number gain | CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME | Pathogenic | ClinGen Dosage Sensitivity Map | 3 |