A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067124



Internal ID18809655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:69994778..70200621hg38UCSC Ensembl
Innerchr16:70028681..70234524hg19UCSC Ensembl
Innerchr16:68586182..68792025hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38205844
hg19205844
hg18205844
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2998n100
Supporting Variantsnssv3722736
Samples
Known GenesCLEC18C, 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)nsv1067124
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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