A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066989



Internal ID19156208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46190497hg38UCSC Ensembl
Innerchr17:44165803..44267863hg19UCSC Ensembl
Innerchr17:41521621..41623640hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38102061
hg19102061
hg18102020
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546304, nssv3546303, nssv3546295, nssv3546291, nssv3546287, nssv3546265, nssv3546283, nssv3546301, nssv3546292, nssv3546302, nssv3546268, nssv3546280, nssv3546278, nssv3546269, nssv3546293, nssv3546274, nssv3546263, nssv3546284, nssv3546288, nssv3546272, nssv3546279, nssv3546299, nssv3546271, nssv3546297, nssv3546296, nssv3546289, nssv3546276, nssv3546277, nssv3546294, nssv3546267, nssv3546275, nssv3546282, nssv3546286, nssv3546285, nssv3546281, nssv3546290, nssv3546264, nssv3546273, nssv3546298, nssv3546300, nssv3546270, nssv3546266
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)nsv1066989
Frequency
Sample Size11257
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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