A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950113



Internal ID16952300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:111495303..111505002hg38UCSC Ensembl
Outerchr5:110831001..110840700hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg389700
hg199700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997802
SamplesBILGI_BIOE
Known GenesSTARD4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950113
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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