A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5633n54



Internal ID22773528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46182553..46248879hg38UCSC Ensembl
chr17:44259919..44326245hg19UCSC Ensembl
chr17:41615696..41682022hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3866327
hg1966327
hg1866327
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575214, nsv575253, nsv575251
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)dgv5633n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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