A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3114068



Internal ID21297334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110104902..110411537hg38UCSC Ensembl
Innerchr2:110862479..111169114hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38306636
hg19306636
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14105774
Samplessample227
Known GenesLIMS3-LOC440895, LINC00116, LINC01106, LINC01123, LOC100288570, LOC100507334, LOC440895, MALL, MIR4436B1, MIR4436B2, NPHP1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3114068
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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