A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952853



Internal ID16955040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64729283..64751182hg38UCSC Ensembl
Outerchr14:65196001..65217900hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3821900
hg1921900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998355
SamplesBILGI_BIOE
Known GenesPLEKHG3, SPTB
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952853
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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