nsv3870731
- 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:185,396
- Description:GRCh37/hg19 Xp21.1(chrX:32349168-32534563)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: 534 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 534 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3870731 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 32,331,051 | 32,516,446 |
nsv3870731 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 32,349,168 | 32,534,563 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15141616 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000449440.3, VCV000393835.3 | 0 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15141616 | Remapped | Perfect | NC_000023.11:g.(?_ 32331051)_(3251644 6_?)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 32,331,051 | 32,516,446 |
nssv15141616 | Submitted genomic | NC_000023.10:g.(?_ 32349168)_(3253456 3_?)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 32,349,168 | 32,534,563 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15141616 | GRCh37: NC_000023.10:g.(?_32349168)_(32534563_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000449440.3, VCV000393835.3 | 0 |