A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2388121



Internal ID17840680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177339457..177349330hg38UCSC Ensembl
Innerchr5:176766458..176776331hg19UCSC Ensembl
Innerchr5:176699064..176708937hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg389874
hg199874
hg189874
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964979
Supporting Variants
SamplesHGDP00998
Known GenesLMAN2
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)nssv2388121
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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