A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2367390



Internal ID17872967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82008233..82010313hg38UCSC Ensembl
Innerchr5:81304052..81306132hg19UCSC Ensembl
Innerchr5:81339808..81341888hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382081
hg192081
hg182081
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980692
Supporting Variants
SamplesHGDP01284
Known GenesATG10
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)nssv2367390
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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