nsv3897255
- 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:386,164
- Description:GRCh38/hg38 Xp21.3-21.2(chrX:29128906-29515069)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: 749 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 749 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 110 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3897255 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 29,128,906 | 29,515,069 |
| nsv3897255 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 29,147,023 | 29,533,186 |
| nsv3897255 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 29,056,944 | 29,443,107 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119877 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053064.5, VCV000059242.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119877 | Submitted genomic | NC_000023.11:g.(?_ 29128906)_(2951506 9_?)del | GRCh38 (hg38) | NC_000023.11 | ChrX | 29,128,906 | 29,515,069 |
| nssv15119877 | Submitted genomic | NC_000023.10:g.(?_ 29147023)_(2953318 6_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 29,147,023 | 29,533,186 |
| nssv15119877 | Submitted genomic | NC_000023.9:g.(?_2 9056944)_(29443107 _?)del | NCBI36 (hg18) | NC_000023.9 | ChrX | 29,056,944 | 29,443,107 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15119877 | GRCh37: NC_000023.10:g.(?_29147023)_(29533186_?)del, GRCh38: NC_000023.11:g.(?_29128906)_(29515069_?)del, NCBI36: NC_000023.9:g.(?_29056944)_(29443107_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053064.5, VCV000059242.1 | 1 |