A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1992065



Internal ID17755762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69083042..69085842hg38UCSC Ensembl
Innerchr14:69549759..69552559hg19UCSC Ensembl
Innerchr14:68619512..68622312hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg382801
hg192801
hg182801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983839
Supporting Variants
SamplesHGDP00521
Known GenesDCAF5
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1992065
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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