A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064298



Internal ID18806829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088904..46185584hg38UCSC Ensembl
Innerchr17:44166270..44262950hg19UCSC Ensembl
Innerchr17:41522088..41618727hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3896681
hg1996681
hg1896640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3548423, nssv3548424, nssv3548425
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064298
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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