A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571263



Internal ID16358672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:3879940..3880980hg38UCSC Ensembl
Innerchr16:3929941..3930981hg19UCSC Ensembl
Innerchr16:3869942..3870982hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg381041
hg191041
hg181041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4878n54
Supporting Variantsnssv852271
Samples
Known GenesCREBBP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571263
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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