A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950382



Internal ID17299256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:113564945..113571644hg38UCSC Ensembl
Outerchr4:114486101..114492800hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg386700
hg196700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996768
SamplesBILGI_BIOE
Known GenesCAMK2D
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950382
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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