A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4018786



Internal ID22080417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:58847380..58959890hg38UCSC Ensembl
Outerchr5:58845987..58962168hg38UCSC Ensembl
Innerchr5:58143207..58255717hg19UCSC Ensembl
Outerchr5:58141814..58257995hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38116182
hg19116182
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156349
Supporting Variants
Samples
Known GenesRAB3C
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4018786
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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