A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2517880



Internal ID17809116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133002580..133004382hg38UCSC Ensembl
Innerchr8:134014825..134016627hg19UCSC Ensembl
Innerchr8:134084007..134085809hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg381803
hg191803
hg181803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981981
Supporting Variants
SamplesHGDP00778
Known GenesTG
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)nssv2517880
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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