nsv6315036
- 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:25,784
- Description:Single allele AND Luscan-Lumish syndrome
- Publication(s):Pappas et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 144 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6315036 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 47,142,709 | 47,168,492 | ||
| nsv6315036 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 47,184,199 | 47,209,982 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976578 | deletion | Multiple | Multiple | LUSCAN-LUMISH SYNDROME; LLS; Luscan-lumish syndrome | Uncertain significance | ClinVar | RCV002266628.1, VCV001696498.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17976578 | Submitted genomic | NC_000003.12:g.471 42709_47168492del | GRCh38 (hg38) | NC_000003.12 | Chr3 | 47,142,709 | 47,168,492 | ||
| nssv17976578 | Remapped | Perfect | NC_000003.11:g.471 84199_47209982del | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 47,184,199 | 47,209,982 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976578 | GRCh38: NC_000003.12:g.47142709_47168492del | deletion | de novo | LUSCAN-LUMISH SYNDROME; LLS; Luscan-lumish syndrome | Uncertain significance | ClinVar | RCV002266628.1, VCV001696498.1 |