A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060569



Internal ID19149788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46211213hg38UCSC Ensembl
Innerchr17:44165803..44288579hg19UCSC Ensembl
Innerchr17:41521621..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38122777
hg19122777
hg18122736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3720317, nssv3546368, nssv3546370, nssv3546372, nssv3546369, nssv3546373, nssv3546363, nssv3546365, nssv3546364, nssv3546367, nssv3546371, nssv3546366
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)nsv1060569
Frequency
Sample Size11257
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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