A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059495



Internal ID18802026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69990674..70164481hg38UCSC Ensembl
Innerchr16:70024577..70198384hg19UCSC Ensembl
Innerchr16:68582078..68755885hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38173808
hg19173808
hg18173808
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3005n100
Supporting Variantsnssv3722735, nssv3559478, nssv3559479, nssv3559480, nssv3559481
Samples
Known GenesMIR1972-1, 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)nsv1059495
Frequency
Sample Size29084
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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