A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998394



Internal ID17291346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94173564..94175163hg38UCSC Ensembl
Outerchr14:94639901..94641500hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952234
Supporting Variants
SamplesBILGI_BIOE
Known GenesPPP4R4
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998394
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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