nsv3905990
- 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:322,075
- Description:GRCh38/hg38 Xp21.1(chrX:31632068-31954142)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: 742 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 742 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 230 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3905990 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 31,632,068 | 31,954,142 |
| nsv3905990 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,650,185 | 31,972,259 |
| nsv3905990 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,560,106 | 31,882,180 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121198 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053078.5, VCV000059256.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121198 | Submitted genomic | NC_000023.11:g.(?_ 31632068)_(3195414 2_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 31,632,068 | 31,954,142 |
| nssv15121198 | Submitted genomic | NC_000023.10:g.(?_ 31650185)_(3197225 9_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,650,185 | 31,972,259 |
| nssv15121198 | Submitted genomic | NC_000023.9:g.(?_3 1560106)_(31882180 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,560,106 | 31,882,180 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121198 | GRCh37: NC_000023.10:g.(?_31650185)_(31972259_?)del, GRCh38: NC_000023.11:g.(?_31632068)_(31954142_?)del, NCBI36: NC_000023.9:g.(?_31560106)_(31882180_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000053078.5, VCV000059256.1 | 0 |