A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5634n54



Internal ID22773529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46182553..46272927hg38UCSC Ensembl
chr17:44259919..44350293hg19UCSC Ensembl
chr17:41615696..41706070hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3890375
hg1990375
hg1890375
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575259, nsv575256, nsv575262, nsv575254, nsv575230, nsv575258, nsv575215, nsv575260, nsv575218, nsv575255
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)dgv5634n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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