nsv3884968
- 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:349,389
- Description:
GRCh37/hg19 Xp22.33(chrX:571286-920674)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: 3036 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 3024 SVs from 62 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3884968 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 610,551 | 959,939 |
nsv3884968 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 571,286 | 920,674 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15124117 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000240298.1, VCV000253530.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15124117 | Remapped | Perfect | NC_000023.11:g.(?_ 610551)_(959939_?) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 610,551 | 959,939 |
nssv15124117 | Submitted genomic | NC_000023.10:g.(?_ 571286)_(920674_?) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 571,286 | 920,674 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15124117 | GRCh37: NC_000023.10:g.(?_571286)_(920674_?)del | copy number loss | unknown | See cases | Pathogenic | ClinVar | RCV000240298.1, VCV000253530.1 | 1 |