A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998343



Internal ID16944609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:51988883..52010582hg38UCSC Ensembl
Outerchr14:52455601..52477300hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3821700
hg1921700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952842
Supporting Variants
SamplesBILGI_BIOE
Known GenesC14orf166, NID2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998343
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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