A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3225n100



Internal ID20154841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46142189..46190497hg38UCSC Ensembl
chr17:44219555..44267863hg19UCSC Ensembl
chr17:41575332..41623640hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3848309
hg1948309
hg1848309
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062488, nsv1061922, nsv1062443, nsv1065731, nsv1062165, nsv1063323, nsv1060149, nsv1065193, nsv1065349, nsv1065470
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3225n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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