nsv4683381
- 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:991
- Description:NC_000001.11:g.(?_44822405)_(44823395_?)dup AND Gorlin syndrome
- Publication(s):Evans et al. 2002, Hampel et al. 2014, Lo Muzio et al. 2011, No authors et al. 2021, No authors et al. 2021, No authors et al. 2021, Trepanier et al. 2004
- ClinVar: RCV001033169.1
- ClinVar: VCV000832695.1
- GeneReviews: NBK1151
- MONDO: 0007187
- MedGen: C0004779
- OMIM: 109400
- OMIM: 601309.0001
- OMIM: 601309.0002
- OMIM: 601309.0003
- OMIM: 601309.0004
- OMIM: 601309.0005
- OMIM: 601309.0006
- OMIM: 601309.0007
- OMIM: 601309.0008
- OMIM: 601309.0016
- OMIM: 601309.0017
- Orphanet: 377
- PubMed: 15604628
- PubMed: 20301330
- PubMed: 21304560
- PubMed: 25394175
- PubMed: 26389210
- PubMed: 26389258
- PubMed: 26389333
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 118 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 118 SVs from 22 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683381 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 44,822,405 | 44,823,395 |
| nsv4683381 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 45,288,077 | 45,289,067 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16212365 | duplication | Multiple | Multiple | BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001033169.1, VCV000832695.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16212365 | Remapped | Perfect | NC_000001.11:g.(?_ 44822405)_(4482339 5_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 44,822,405 | 44,823,395 |
| nssv16212365 | Submitted genomic | NC_000001.10:g.(?_ 45288077)_(4528906 7_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 45,288,077 | 45,289,067 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16212365 | GRCh37: NC_000001.10:g.(?_45288077)_(45289067_?)dup | duplication | germline | BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants | Uncertain significance | ClinVar | RCV001033169.1, VCV000832695.1 |