nsv3903085
- 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:204,942
- Description:GRCh38/hg38 Xp22.12(chrX:19677033-19881974)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: 343 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 343 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 6 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3903085 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 19,677,033 | 19,881,974 |
| nsv3903085 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 19,695,151 | 19,900,092 |
| nsv3903085 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 19,605,072 | 19,810,013 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119802 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000051385.4, VCV000057650.1 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119802 | Submitted genomic | NC_000023.11:g.(?_ 19677033)_(1988197 4_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 19,677,033 | 19,881,974 |
| nssv15119802 | Submitted genomic | NC_000023.10:g.(?_ 19695151)_(1990009 2_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 19,695,151 | 19,900,092 |
| nssv15119802 | Submitted genomic | NC_000023.9:g.(?_1 9605072)_(19810013 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 19,605,072 | 19,810,013 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119802 | GRCh37: NC_000023.10:g.(?_19695151)_(19900092_?)del, GRCh38: NC_000023.11:g.(?_19677033)_(19881974_?)del, NCBI36: NC_000023.9:g.(?_19605072)_(19810013_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000051385.4, VCV000057650.1 | 0 |