A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2345193



Internal ID17484869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:272136..295286hg38UCSC Ensembl
Innerchr5:272251..295401hg19UCSC Ensembl
Innerchr5:325251..348401hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3823151
hg1923151
hg1823151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980603
Supporting Variants
SamplesHGDP00998
Known GenesPDCD6
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)nssv2345193
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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