A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv852270



Internal ID16146226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3878214..3881088hg38UCSC Ensembl
Innerchr16:3928215..3931089hg19UCSC Ensembl
Innerchr16:3868216..3871090hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382875
hg192875
hg182875
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571262
Supporting Variants
Samples
Known GenesCREBBP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv852270
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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