nsv3876341
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:256,930
- Description:GRCh37/hg19 Xp21.1(chrX:31637969-31894898)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: 622 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 622 SVs from 49 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3876341 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,619,852 | 31,876,781 |
nsv3876341 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,637,969 | 31,894,898 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15141119 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000510341.2, VCV000443949.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15141119 | Remapped | Perfect | NC_000023.11:g.(?_ 31619852)_(3187678 1_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,619,852 | 31,876,781 |
nssv15141119 | Submitted genomic | NC_000023.10:g.(?_ 31637969)_(3189489 8_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,637,969 | 31,894,898 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15141119 | GRCh37: NC_000023.10:g.(?_31637969)_(31894898_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000510341.2, VCV000443949.2 | 0 |