A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058087



Internal ID18800618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:70117612..70212424hg38UCSC Ensembl
Innerchr16:70151515..70246327hg19UCSC Ensembl
Innerchr16:68709016..68803828hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3894813
hg1994813
hg1894813
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3011n100
Supporting Variantsnssv3559530, nssv3559531
Samples
Known GenesCLEC18C, PDPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058087
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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