nsv3893761
- 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:4,880
- Description:GRCh38/hg38 Xp11.3(chrX:47470810-47475689)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: 144 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 2 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3893761 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 47,470,810 | 47,475,689 |
| nsv3893761 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 47,330,209 | 47,335,088 |
| nsv3893761 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 47,215,153 | 47,220,032 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132796 | copy number loss | Multiple | Multiple | See cases | conflicting data from submitters | ClinVar | RCV000134818.4, VCV000145448.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132796 | Submitted genomic | NC_000023.11:g.(?_ 47470810)_(4747568 9_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 47,470,810 | 47,475,689 |
| nssv15132796 | Submitted genomic | NC_000023.10:g.(?_ 47330209)_(4733508 8_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 47,330,209 | 47,335,088 |
| nssv15132796 | Submitted genomic | NC_000023.9:g.(?_4 7215153)_(47220032 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 47,215,153 | 47,220,032 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132796 | GRCh37: NC_000023.10:g.(?_47330209)_(47335088_?)del, GRCh38: NC_000023.11:g.(?_47470810)_(47475689_?)del, NCBI36: NC_000023.9:g.(?_47215153)_(47220032_?)del | copy number loss | see ClinVar for details | See cases | conflicting data from submitters | ClinVar | RCV000134818.4, VCV000145448.2 | 1 |