A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5625n54



Internal ID20139049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46171482..46193672hg38UCSC Ensembl
chr17:44248848..44271038hg19UCSC Ensembl
chr17:41604625..41626815hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3822191
hg1922191
hg1822191
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575193, nsv575184, nsv575192, nsv575187, nsv575182, nsv575189, nsv575191, nsv575179, nsv575190, nsv575183
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5625n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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