A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056813



Internal ID18799344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32081501..33818870hg38UCSC Ensembl
Innerchr16:32092822..33621337hg19UCSC Ensembl
Innerchr16:32000323..33528838hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381737370
hg191528516
hg181528516
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2839n100
Supporting Variantsnssv3550248
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)nsv1056813
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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