A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2364855



Internal ID17809507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:76376057..76379107hg38UCSC Ensembl
Innerchr5:75671882..75674932hg19UCSC Ensembl
Innerchr5:75707638..75710688hg18UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383051
hg193051
hg183051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980686
Supporting Variants
SamplesHGDP00778
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)nssv2364855
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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