A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996673



Internal ID16942939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:15647778..15695177hg38UCSC Ensembl
Outerchr4:15649401..15696800hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg3847400
hg1947400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv949802
Supporting Variants
SamplesBILGI_BIOE
Known GenesFAM200B, FBXL5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996673
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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