A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1981n54



Internal ID18994157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67579272..68049469hg38UCSC Ensembl
chr11:67346743..67816936hg19UCSC Ensembl
chr11:67103319..67573512hg18UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38470198
hg19470194
hg18470194
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv555268, nsv555269
SamplesNINDS_4
Known GenesACY3, ALDH3B1, ALDH3B2, DOC2GP, FAM86C2P, GSTP1, MIR4691, MIR6753, MIR7113, NDUFS8, NDUFV1, NUDT8, TBX10, TCIRG1, UNC93B1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv1981n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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