A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061529



Internal ID18804060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46192180hg38UCSC Ensembl
Innerchr17:44165803..44269546hg19UCSC Ensembl
Innerchr17:41521621..41625323hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38103744
hg19103744
hg18103703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546311, nssv3546307, nssv3546305, nssv3546306, nssv3546309, nssv3546314, nssv3546312, nssv3546310, nssv3546313, nssv3546308
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)nsv1061529
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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