A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059337



Internal ID18801868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69954471..70146310hg38UCSC Ensembl
Innerchr16:69988374..70180213hg19UCSC Ensembl
Innerchr16:68545875..68737714hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38191840
hg19191840
hg18191840
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3000n100
Supporting Variantsnssv3559458, nssv3722729, nssv3559454, nssv3559456, nssv3559457, nssv3722730, nssv3559455
Samples
Known GenesCLEC18A, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059337
Frequency
Sample Size29084
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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