nsv4683595
- 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:439,162
- Description:NC_000013.11:g.(?_48040910)_(48480071_?)del AND Retinoblastoma
- Publication(s):ACMG Board of Directors et al. 2014, Botkin et al. 2015, Green et al. 2013, Hampel et al. 2014, Kalia et al. 2016, Lohmann et al. 2000, Lu et al. 2014, Miller et al. 2021, Miller et al. 2022, Trepanier et al. 2004
- ClinVar: RCV001033135.2
- ClinVar: VCV000832661.2
- GeneReviews: NBK1452
- HP: 0009919
- MONDO: 0008380
- MeSH: D012175
- MedGen: C0035335
- OMIM: 180200
- OMIM: 614041.0001
- OMIM: 614041.0002
- OMIM: 614041.0006
- OMIM: 614041.0007
- OMIM: 614041.0011
- OMIM: 614041.0016
- Orphanet: 790
- PubMed: 15604628
- PubMed: 20301625
- PubMed: 23788249
- PubMed: 24493721
- PubMed: 25356965
- PubMed: 25394175
- PubMed: 26140447
- PubMed: 27854360
- PubMed: 34012068
- PubMed: 35802134
- 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: 1226 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1226 SVs from 75 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4683595 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 48,040,910 | 48,480,071 |
| nsv4683595 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000013.10 | Chr13 | 48,615,046 | 49,054,207 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv16214388 | deletion | Multiple | Multiple | RETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001033135.2, VCV000832661.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16214388 | Remapped | Perfect | NC_000013.11:g.(?_ 48040910)_(4848007 1_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 48,040,910 | 48,480,071 |
| nssv16214388 | Submitted genomic | NC_000013.10:g.(?_ 48615046)_(4905420 7_?)del | GRCh37 (hg19) | NC_000013.10 | Chr13 | 48,615,046 | 49,054,207 |
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 |
|---|---|---|---|---|---|---|---|
| nssv16214388 | GRCh37: NC_000013.10:g.(?_48615046)_(49054207_?)del | deletion | germline | RETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variants | Pathogenic | ClinVar | RCV001033135.2, VCV000832661.2 |