nsv3877424
- 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:144,600
- Description:GRCh37/hg19 Xp21.1(chrX:31951570-32096169)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: 475 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 475 SVs from 55 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3877424 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 31,933,453 | 32,078,052 |
nsv3877424 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 31,951,570 | 32,096,169 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15143621 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000511594.2, VCV000442714.2 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15143621 | Remapped | Perfect | NC_000023.11:g.(?_ 31933453)_(3207805 2_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 31,933,453 | 32,078,052 |
nssv15143621 | Submitted genomic | NC_000023.10:g.(?_ 31951570)_(3209616 9_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 31,951,570 | 32,096,169 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15143621 | GRCh37: NC_000023.10:g.(?_31951570)_(32096169_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000511594.2, VCV000442714.2 | 0 |