A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4889n54



Internal ID20138313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:6583079..6639091hg38UCSC Ensembl
chr16:6633080..6689092hg19UCSC Ensembl
chr16:6573081..6629093hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3856013
hg1956013
hg1856013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571332, nsv571334, nsv571333, nsv571335
SamplesHGDP00552, HGDP00548, HGDP00787, HGDP00550, HGDP00978
Known GenesRBFOX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4889n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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