A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4004264



Internal ID22065895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:26643835..26674412hg38UCSC Ensembl
Outerchr8:26641135..26675087hg38UCSC Ensembl
Innerchr8:26501351..26531929hg19UCSC Ensembl
Outerchr8:26498651..26532604hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3833953
hg1933954
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154333
Supporting Variants
Samples
Known GenesDPYSL2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4004264
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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