nsv3896305
- 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:62,622
- Description:GRCh38/hg38 Xp22.12(chrX:20154969-20217590)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: 206 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 4 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3896305 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 20,154,969 | 20,217,590 |
| nsv3896305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 20,173,087 | 20,235,708 |
| nsv3896305 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 20,083,008 | 20,145,629 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139338 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143719.5, VCV000155652.2 | 0 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139338 | Submitted genomic | NC_000023.11:g.(?_ 20154969)_(2021759 0_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 20,154,969 | 20,217,590 |
| nssv15139338 | Submitted genomic | NC_000023.10:g.(?_ 20173087)_(2023570 8_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 20,173,087 | 20,235,708 |
| nssv15139338 | Submitted genomic | NC_000023.9:g.(?_2 0083008)_(20145629 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 20,083,008 | 20,145,629 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139338 | GRCh37: NC_000023.10:g.(?_20173087)_(20235708_?)del, GRCh38: NC_000023.11:g.(?_20154969)_(20217590_?)del, NCBI36: NC_000023.9:g.(?_20083008)_(20145629_?)del | copy number loss | maternal | See cases | Pathogenic | ClinVar | RCV000143719.5, VCV000155652.2 | 0 |