nsv5672526
- 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:7,767,151
- Description:Single allele AND Distal 10q deletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 30505 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 30164 SVs from 129 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672526 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 125,859,597 | 133,626,747 |
| nsv5672526 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 127,548,166 | 135,440,251 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17173201 | deletion | Multiple | Multiple | CHROMOSOME 10q26 DELETION SYNDROME; Chromosome 10q26 deletion syndrome; Distal monosomy 10q | Pathogenic | ClinVar | RCV001391670.1, VCV001077185.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173201 | Remapped | Good | NC_000010.11:g.125 859597_133626747de l | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 125,859,597 | 133,626,747 |
| nssv17173201 | Submitted genomic | NC_000010.10:g.127 548166_135440251de l | GRCh37 (hg19) | NC_000010.10 | Chr10 | 127,548,166 | 135,440,251 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17173201 | GRCh37: NC_000010.10:g.127548166_135440251del | deletion | de novo | CHROMOSOME 10q26 DELETION SYNDROME; Chromosome 10q26 deletion syndrome; Distal monosomy 10q | Pathogenic | ClinVar | RCV001391670.1, VCV001077185.1 | 1 |