nsv3887184
- 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:304,378
- Description:GRCh37/hg19 Xp21.1(chrX:32232129-32536506)x1 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 718 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 718 SVs from 61 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3887184 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,214,012 | 32,518,389 |
nsv3887184 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,232,129 | 32,536,506 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15154305 | copy number loss | Multiple | Multiple | not provided | not provided | ClinVar | RCV000709828.1, VCV000585230.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15154305 | Remapped | Perfect | NC_000023.11:g.(?_ 32214012)_(3251838 9_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,214,012 | 32,518,389 |
nssv15154305 | Submitted genomic | NC_000023.10:g.(?_ 32232129)_(3253650 6_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,232,129 | 32,536,506 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15154305 | GRCh37: NC_000023.10:g.(?_32232129)_(32536506_?)del | copy number loss | unknown | not provided | not provided | ClinVar | RCV000709828.1, VCV000585230.1 | 1 |