A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064402



Internal ID19153621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136346..46218456hg38UCSC Ensembl
Innerchr17:44213712..44295822hg19UCSC Ensembl
Innerchr17:41569489..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3882111
hg1982111
hg1882111
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3213n100
Supporting Variantsnssv3723874, nssv3723875, nssv3550150, nssv3550151, nssv3550149, nssv3550148
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)nsv1064402
Frequency
Sample Size11257
Observed Gain1
Observed Loss5
Observed Complex0
Frequencyn/a


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