nsv7098720
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:18,350
- Description:Single allele AND Peeling skin syndrome 1
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 171 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 171 SVs from 38 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7098720 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 31,111,325 | 31,129,674 | ||
| nsv7098720 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 31,079,102 | 31,097,451 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792563 | deletion | Multiple | Multiple | Generalized peeling skin syndrome; PEELING SKIN SYNDROME 1; PSS1; Peeling skin syndrome 1; Peeling skin syndrome type B | Pathogenic | ClinVar | RCV003156207.1, VCV002446051.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792563 | Submitted genomic | NC_000006.12:g.(?_ 31111325)_(3112967 4_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 31,111,325 | 31,129,674 | ||
| nssv18792563 | Remapped | Perfect | NC_000006.11:g.(?_ 31079102)_(3109745 1_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 31,079,102 | 31,097,451 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792563 | GRCh38: NC_000006.12:g.(?_31111325)_(31129674_?)del | deletion | biparental | Generalized peeling skin syndrome; PEELING SKIN SYNDROME 1; PSS1; Peeling skin syndrome 1; Peeling skin syndrome type B | Pathogenic | ClinVar | RCV003156207.1, VCV002446051.1 |