A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6999n54



Internal ID20140423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110038675..110225473hg38UCSC Ensembl
chr2:110796252..110983050hg19UCSC Ensembl
chr2:110153541..110340339hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38186799
hg19186799
hg18186799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582656, nsv582662
Samples
Known GenesLINC00116, MALL, MIR4267, MIR4436B1, MIR4436B2, NPHP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6999n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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