nsv3872415
- 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:322,264
- Description:
GRCh37/hg19 Xp22.33(chrX:517225-839488)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: 2795 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 2791 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3872415 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 556,490 | 878,753 |
nsv3872415 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 517,225 | 839,488 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15142845 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511310.2, VCV000442848.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15142845 | Remapped | Perfect | NC_000023.11:g.(?_ 556490)_(878753_?) del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 556,490 | 878,753 |
nssv15142845 | Submitted genomic | NC_000023.10:g.(?_ 517225)_(839488_?) del | GRCh37 (hg19) | NC_000023.10 | ChrX | 517,225 | 839,488 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15142845 | GRCh37: NC_000023.10:g.(?_517225)_(839488_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511310.2, VCV000442848.2 | 1 |