A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060662



Internal ID18803193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46147167..46199182hg38UCSC Ensembl
Innerchr17:44224533..44276548hg19UCSC Ensembl
Innerchr17:41580310..41632325hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3852016
hg1952016
hg1852016
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3221n100
Supporting Variantsnssv3556839, nssv3556834, nssv3556836, nssv3556837, nssv3724177, nssv3724178, nssv3556835, nssv3556838
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)nsv1060662
Frequency
Sample Size29084
Observed Gain4
Observed Loss4
Observed Complex0
Frequencyn/a


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