A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3550089



Internal ID18848370
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 StatusS
Merged Variantsnsv1059302
Supporting Variants
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)nssv3550089
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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