nsv5672796
- 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:16,856,076
- Description:Single allele AND Distal monosomy 13q
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 44428 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 44434 SVs from 126 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5672796 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 94,027,723 | 110,883,798 |
| nsv5672796 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 94,679,977 | 111,536,145 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv17173214 | deletion | Multiple | Multiple | ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION; Anal atresia, hypospadias, and penoscrotal inversion | Pathogenic | ClinVar | RCV001391677.1, VCV001077192.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17173214 | Remapped | Good | NC_000013.11:g.940 27723_110883798del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 94,027,723 | 110,883,798 |
| nssv17173214 | Submitted genomic | NC_000013.10:g.946 79977_111536145del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 94,679,977 | 111,536,145 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv17173214 | GRCh37: NC_000013.10:g.94679977_111536145del | deletion | de novo | ANAL ATRESIA, HYPOSPADIAS, AND PENOSCROTAL INVERSION; Anal atresia, hypospadias, and penoscrotal inversion | Pathogenic | ClinVar | RCV001391677.1, VCV001077192.1 | 1 |