A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059692



Internal ID19148911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46203331hg38UCSC Ensembl
Innerchr17:44165803..44280697hg19UCSC Ensembl
Innerchr17:41521621..41636474hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38114895
hg19114895
hg18114854
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3182n100
Supporting Variantsnssv3546352, nssv3546351, nssv3546354, nssv3546350, nssv3546349, nssv3546353
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)nsv1059692
Frequency
Sample Size11257
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer