A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062041



Internal ID19151260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46209238hg38UCSC Ensembl
Innerchr17:44165803..44286604hg19UCSC Ensembl
Innerchr17:41521621..41642381hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38120802
hg19120802
hg18120761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546360, nssv3546359, nssv3546357, nssv3546356, nssv3546358, nssv3546361, nssv3546362
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)nsv1062041
Frequency
Sample Size11257
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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