A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066744



Internal ID18809275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46135838..46169258hg38UCSC Ensembl
Innerchr17:44213204..44246624hg19UCSC Ensembl
Innerchr17:41568981..41602401hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3833421
hg1933421
hg1833421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3212n100
Supporting Variantsnssv3550064
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)nsv1066744
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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