A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4020803



Internal ID22082434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:40787944..40858479hg38UCSC Ensembl
Outerchr5:40783805..40860911hg38UCSC Ensembl
Innerchr5:40788046..40858581hg19UCSC Ensembl
Outerchr5:40783907..40861013hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3877107
hg1977107
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156331
Supporting Variants
Samples
Known GenesCARD6, LOC100506548, PRKAA1, RPL37, SNORD72
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4020803
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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