nsv4454005
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:45,974
- Description:NC_000010.11:g.(?_102504143)_(102550116_?)del AND multiple conditions
- 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: RCV000800683.4
- ClinVar: VCV000646409.6
- GeneReviews: NBK1151
- HP: 0002885
- MONDO: 0007187
- MONDO: 0007959
- MeSH: D008527
- MedGen: C0004779
- MedGen: C0025149
- OMIM: 109400
- OMIM: 155255
- 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
- OMIM: 612250.0002
- Orphanet: 377
- Orphanet: 616
- 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: 174 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 174 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4454005 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 102,504,143 | 102,550,116 |
| nsv4454005 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 104,263,900 | 104,309,873 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15770252 | deletion | Multiple | Multiple | BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; MEDULLOBLASTOMA; MDB; Medulloblastoma; Medulloblastoma; Medulloblastoma; Medulloblastoma; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000800683.4, VCV000646409.6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15770252 | Submitted genomic | NC_000010.11:g.(?_ 102504143)_(102550 116_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 102,504,143 | 102,550,116 |
| nssv15770252 | Submitted genomic | NC_000010.10:g.(?_ 104263900)_(104309 873_?)del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 104,263,900 | 104,309,873 |
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 |
|---|---|---|---|---|---|---|---|
| nssv15770252 | GRCh37: NC_000010.10:g.(?_104263900)_(104309873_?)del, GRCh38: NC_000010.11:g.(?_102504143)_(102550116_?)del | deletion | germline | BASAL CELL NEVUS SYNDROME; BCNS; Gorlin syndrome; Gorlin syndrome; MEDULLOBLASTOMA; MDB; Medulloblastoma; Medulloblastoma; Medulloblastoma; Medulloblastoma; Nevoid Basal Cell Carcinoma Syndrome; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV000800683.4, VCV000646409.6 |