A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057436



Internal ID19146655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46110933..46215377hg38UCSC Ensembl
Innerchr17:44188299..44292743hg19UCSC Ensembl
Innerchr17:41544082..41648520hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38104445
hg19104445
hg18104439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3202n100
Supporting Variantsnssv3548609
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)nsv1057436
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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