nsv3895194
- 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:128,000
- Description:GRCh38/hg38 Xp21.1(chrX:31645986-31773985)x1 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: 368 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 368 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 101 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 |
|---|---|---|---|---|---|---|---|
| nsv3895194 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 31,645,986 | 31,773,985 |
| nsv3895194 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,664,103 | 31,792,102 |
| nsv3895194 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 31,574,024 | 31,702,023 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15122765 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141461.4, VCV000152962.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15122765 | Submitted genomic | NC_000023.11:g.(?_ 31645986)_(3177398 5_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 31,645,986 | 31,773,985 |
| nssv15122765 | Submitted genomic | NC_000023.10:g.(?_ 31664103)_(3179210 2_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,664,103 | 31,792,102 |
| nssv15122765 | Submitted genomic | NC_000023.9:g.(?_3 1574024)_(31702023 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 31,574,024 | 31,702,023 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15122765 | GRCh37: NC_000023.10:g.(?_31664103)_(31792102_?)del, GRCh38: NC_000023.11:g.(?_31645986)_(31773985_?)del, NCBI36: NC_000023.9:g.(?_31574024)_(31702023_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000141461.4, VCV000152962.2 | 1 |