A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5637n54



Internal ID20139061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46190497..46290846hg38UCSC Ensembl
chr17:44267863..44368212hg19UCSC Ensembl
chr17:41623640..41723989hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38100350
hg19100350
hg18100350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575248, nsv575243, nsv575234, nsv575233, nsv575242
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5637n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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