A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058065



Internal ID18800596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46136346hg38UCSC Ensembl
Innerchr17:44165803..44213712hg19UCSC Ensembl
Innerchr17:41521621..41569489hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3847910
hg1947910
hg1847869
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3183n100
Supporting Variantsnssv3546156, nssv3546158, nssv3719560, nssv3546157
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058065
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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