A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059394



Internal ID18801925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46171482hg38UCSC Ensembl
Innerchr17:44165803..44248848hg19UCSC Ensembl
Innerchr17:41521621..41604625hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3883046
hg1983046
hg1883005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3186n100
Supporting Variantsnssv3546203, nssv3546204, nssv3546202
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)nsv1059394
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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