nsv6137854
- 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:756,799
- Description:
nsv513783 AND Autism, susceptibility to, X-linked 2 - Publication(s):Lawson-Yuen et al. 2008
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1769 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 1769 SVs from 71 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6137854 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 5,250,356 | 6,007,154 |
| nsv6137854 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 5,168,397 | 5,925,195 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17683632 | deletion | Multiple | Multiple | AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2; Autism, susceptibility to, X-linked 2 | risk factor | ClinVar | RCV000032597.8, VCV000011052.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17683632 | Remapped | Perfect | NC_000023.11:g.525 0356_6007154del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 5,250,356 | 6,007,154 |
| nssv17683632 | Submitted genomic | NC_000023.10:g.516 8397_5925195del | GRCh37 (hg19) | NC_000023.10 | ChrX | 5,168,397 | 5,925,195 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17683632 | GRCh37: NC_000023.10:g.5168397_5925195del | deletion | germline | AUTISM, SUSCEPTIBILITY TO, X-LINKED 2; AUTSX2; Autism, susceptibility to, X-linked 2 | risk factor | ClinVar | RCV000032597.8, VCV000011052.1 |