A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952856



Internal ID16955043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67702684..67711883hg38UCSC Ensembl
Outerchr14:68169401..68178600hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg389200
hg199200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998359
SamplesBILGI_BIOE
Known GenesRDH12
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952856
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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