A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950381



Internal ID17299255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113542545..113553644hg38UCSC Ensembl
Outerchr4:114463701..114474800hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3811100
hg1911100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996767
SamplesBILGI_BIOE
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950381
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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