A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058469



Internal ID18801000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46103588..46194634hg38UCSC Ensembl
Innerchr17:44180954..44272000hg19UCSC Ensembl
Innerchr17:41536766..41627777hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3891047
hg1991047
hg1891012
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3548546
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)nsv1058469
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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