A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057021



Internal ID18799552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136346..46215377hg38UCSC Ensembl
Innerchr17:44213712..44292743hg19UCSC Ensembl
Innerchr17:41569489..41648520hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3879032
hg1979032
hg1879032
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3219n100
Supporting Variantsnssv3550145, nssv3550146, nssv3550147
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)nsv1057021
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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