nsv3892474
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:145,527
- Description:GRCh38/hg38 Xp21.1(chrX:31695292-31840818)x0 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 452 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 452 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 129 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3892474 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 31,695,292 | 31,840,818 |
| nsv3892474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,713,409 | 31,858,935 |
| nsv3892474 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,623,330 | 31,768,856 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138207 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141754.5, VCV000153319.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138207 | Submitted genomic | NC_000023.11:g.(?_ 31695292)_(3184081 8_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 31,695,292 | 31,840,818 |
| nssv15138207 | Submitted genomic | NC_000023.10:g.(?_ 31713409)_(3185893 5_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,713,409 | 31,858,935 |
| nssv15138207 | Submitted genomic | NC_000023.9:g.(?_3 1623330)_(31768856 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,623,330 | 31,768,856 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138207 | GRCh37: NC_000023.10:g.(?_31713409)_(31858935_?)del, GRCh38: NC_000023.11:g.(?_31695292)_(31840818_?)del, NCBI36: NC_000023.9:g.(?_31623330)_(31768856_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000141754.5, VCV000153319.2 | 0 |