A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998389



Internal ID17291341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92585056..92592355hg38UCSC Ensembl
Outerchr14:93051401..93058700hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg387300
hg197300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952883
Supporting Variants
SamplesBILGI_BIOE
Known GenesRIN3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998389
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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