A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059322



Internal ID19148541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46137522..46218456hg38UCSC Ensembl
Innerchr17:44214888..44295822hg19UCSC Ensembl
Innerchr17:41570665..41651599hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3880935
hg1980935
hg1880935
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3213n100
Supporting Variantsnssv3723933, nssv3723934, nssv3556422, nssv3556425, nssv3556421, nssv3556424, nssv3556423
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)nsv1059322
Frequency
Sample Size11257
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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