A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059449



Internal ID19148668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147945..46274563hg38UCSC Ensembl
Innerchr17:44225311..44351929hg19UCSC Ensembl
Innerchr17:41581088..41707706hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38126619
hg19126619
hg18126619
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3204n100
Supporting Variantsnssv3556879
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)nsv1059449
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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