nsv4685620
- 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:32,869,239
- Description:GRCh37/hg19 Xq25-28(chrX:122132166-155097214) AND Intellectual disability
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 50760 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 50643 SVs from 108 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685620 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 122,998,313 | 155,867,551 |
| nsv4685620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 122,132,166 | 155,097,214 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16216707 | copy number loss | Multiple | Multiple | Intellectual Disability; Intellectual disability; Intellectual disability | Likely pathogenic | ClinVar | RCV001249592.2, VCV000916135.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216707 | Remapped | Good | NC_000023.11:g.(?_ 122998313)_(155867 551_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 122,998,313 | 155,867,551 |
| nssv16216707 | Submitted genomic | NC_000023.10:g.(?_ 122132166)_(155097 214_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 122,132,166 | 155,097,214 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16216707 | GRCh37: NC_000023.10:g.(?_122132166)_(155097214_?)del | copy number loss | de novo | Intellectual Disability; Intellectual disability; Intellectual disability | Likely pathogenic | ClinVar | RCV001249592.2, VCV000916135.1 |