A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059302



Internal ID19148521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135838..46284631hg38UCSC Ensembl
Innerchr17:44213204..44361997hg19UCSC Ensembl
Innerchr17:41568981..41717774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38148794
hg19148794
hg18148794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3204n100
Supporting Variantsnssv3550089
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059302
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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