A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4009239



Internal ID22070870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56941697..56983563hg38UCSC Ensembl
Outerchr12:56938187..56983725hg38UCSC Ensembl
Innerchr12:57335481..57377347hg19UCSC Ensembl
Outerchr12:57331971..57377509hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3845539
hg1945539
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154836
Supporting Variants
Samples
Known GenesRDH16
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4009239
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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