A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2996751



Internal ID16943017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:98892750..98895949hg38UCSC Ensembl
Outerchr4:99813901..99817100hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv950363
Supporting Variants
SamplesBILGI_BIOE
Known GenesEIF4E
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2996751
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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