A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv76n54



Internal ID18992252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6107061..6108970hg38UCSC Ensembl
chr1:6167121..6169030hg19UCSC Ensembl
chr1:6089708..6091617hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381910
hg191910
hg181910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545234, nsv545233
Samples
Known GenesCHD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv76n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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