A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3559254



Internal ID18857535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:50000769..50107547hg38UCSC Ensembl
Innerchr16:50034680..50141458hg19UCSC Ensembl
Innerchr16:48592181..48698959hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38106779
hg19106779
hg18106779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066081
Supporting Variants
Samples
Known GenesCNEP1R1, HEATR3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3559254
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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