A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2366962



Internal ID17781171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:90512004..90513221hg38UCSC Ensembl
Innerchr5:89807821..89809038hg19UCSC Ensembl
Innerchr5:89843577..89844794hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg381218
hg191218
hg181218
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968218
Supporting Variants
SamplesHGDP00665
Known GenesPOLR3G
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)nssv2366962
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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