nsv4436512
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:complex substitution
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,358,135
- Description:chr10:108525702..109883836 complex variant AND Carcinoma of colon
- Publication(s):Duffy et al. 2013, Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group et al. 2013, Febbo et al. 2011, García-Alfonso et al. 2012, García-Alfonso et al. 2015, Imperiale et al. 2014, Kohlmann et al. 2004, Locker et al. 2006, Schmoll et al. 2012, Sturgeon et al. 2008, Wong et al. 2014
- ClinVar: RCV000508653.1
- ClinVar: VCV000254168.1
- GeneReviews: NBK1211
- MONDO: 0002032
- MedGen: C0699790
- PubMed: 17060676
- PubMed: 19042984
- PubMed: 20301390
- PubMed: 22138009
- PubMed: 22855150
- PubMed: 23012255
- PubMed: 23429431
- PubMed: 23852704
- PubMed: 24996433
- PubMed: 25006736
- PubMed: 25373533
- 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: 2757 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 2757 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 711 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4436512 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 107,324,165 | 108,682,299 |
| nsv4436512 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 107,043,012 | 108,401,146 |
| nsv4436512 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 108,525,702 | 109,883,836 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15754722 | complex substitution | Multiple | Multiple | Carcinoma of colon; Lynch Syndrome | association | ClinVar | RCV000508653.1, VCV000254168.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv15754722 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 107,324,165 | 108,682,299 |
| nssv15754722 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 107,043,012 | 108,401,146 |
| nssv15754722 | Submitted genomic | NCBI36 (hg18) | NC_000003.10 | Chr3 | 108,525,702 | 109,883,836 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|
| nssv15754722 | complex substitution | germline | Carcinoma of colon; Lynch Syndrome | association | ClinVar | RCV000508653.1, VCV000254168.1 |