A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4885n54



Internal ID18997061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6001447..6742418hg38UCSC Ensembl
chr16:6051448..6792419hg19UCSC Ensembl
chr16:5991449..6732420hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38740972
hg19740972
hg18740972
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571314, nsv571316
SamplesHGDP00655
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4885n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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