A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599214



Internal ID16386623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104452850..105512953hg38UCSC Ensembl
Innerchr5:103788551..104848654hg19UCSC Ensembl
Innerchr5:103816450..104876553hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg381060104
hg191060104
hg181060104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1039656
Samples
Known GenesRAB9BP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599214
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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