A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9851n54



Internal ID22777746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:70080597..70083588hg38UCSC Ensembl
chr5:69376424..69379415hg19UCSC Ensembl
chr5:69412180..69415171hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg382992
hg192992
hg182992
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv598521, nsv598520
Samples
Known GenesSMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv9851n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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