A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2366366



Internal ID17746599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:77540862..77558676hg38UCSC Ensembl
Innerchr5:76836687..76854501hg19UCSC Ensembl
Innerchr5:76872443..76890257hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3817815
hg1917815
hg1817815
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964897
Supporting Variants
SamplesHGDP00521
Known Genes
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)nssv2366366
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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