A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065529



Internal ID18808060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46113719..46192180hg38UCSC Ensembl
Innerchr17:44191085..44269546hg19UCSC Ensembl
Innerchr17:41546868..41625323hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3878462
hg1978462
hg1878456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3199n100
Supporting Variantsnssv3549771
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)nsv1065529
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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