A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5635n54



Internal ID20139059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46186557..46193619hg38UCSC Ensembl
chr17:44263923..44270985hg19UCSC Ensembl
chr17:41619700..41626762hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387063
hg197063
hg187063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575223, nsv575226, nsv575227, nsv575217, nsv575222, nsv575220
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)dgv5635n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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