A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055661



Internal ID18798192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136346..46211213hg38UCSC Ensembl
Innerchr17:44213712..44288579hg19UCSC Ensembl
Innerchr17:41569489..41644356hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3874868
hg1974868
hg1874868
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3219n100
Supporting Variantsnssv3550144, nssv3550143
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)nsv1055661
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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