A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066954



Internal ID18809485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32047162..34061880hg38UCSC Ensembl
Innerchr16:32058483..33864347hg19UCSC Ensembl
Innerchr16:31965984..33771848hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382014719
hg191805865
hg181805865
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2840n100
Supporting Variantsnssv3716241
Samples
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066954
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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