A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950388



Internal ID16952575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:129899308..129903707hg38UCSC Ensembl
Outerchr5:129235001..129239400hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997821
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950388
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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