A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5624n54



Internal ID22773519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46169798..46291969hg38UCSC Ensembl
chr17:44247164..44369335hg19UCSC Ensembl
chr17:41602941..41725112hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38122172
hg19122172
hg18122172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575194, nsv575177, nsv575264, nsv575263, nsv575261, nsv575265
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)dgv5624n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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