A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065060



Internal ID19154279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46089043..46234597hg38UCSC Ensembl
Innerchr17:44166409..44311963hg19UCSC Ensembl
Innerchr17:41522227..41667740hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38145555
hg19145555
hg18145514
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3180n100
Supporting Variantsnssv3720530
Samples
Known GenesKANSL1, KANSL1-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065060
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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