A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3556704



Internal ID18854985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46142189..46211213hg38UCSC Ensembl
Innerchr17:44219555..44288579hg19UCSC Ensembl
Innerchr17:41575332..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3869025
hg1969025
hg1869025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1060473
Supporting Variants
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)nssv3556704
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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