A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067484



Internal ID18810015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46114400..46284631hg38UCSC Ensembl
Innerchr17:44191766..44361997hg19UCSC Ensembl
Innerchr17:41547543..41717774hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38170232
hg19170232
hg18170232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3194n100
Supporting Variantsnssv3720626
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)nsv1067484
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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