A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4893n54



Internal ID18997069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6746865..6990984hg38UCSC Ensembl
chr16:6796866..7040985hg19UCSC Ensembl
chr16:6736867..6980986hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38244120
hg19244120
hg18244120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571361, nsv571364, nsv571359
SamplesNINDS_96
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4893n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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