A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952852



Internal ID16955039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64465983..64475282hg38UCSC Ensembl
Outerchr14:64932701..64942000hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg389300
hg199300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998354
SamplesBILGI_BIOE
Known GenesAKAP5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952852
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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