A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2493127



Internal ID17753467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8009392..8246289hg38UCSC Ensembl
Innerchr8:7866914..8103811hg19UCSC Ensembl
Innerchr8:7904324..8141221hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38236898
hg19236898
hg18236898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981908
Supporting Variants
SamplesHGDP00521
Known GenesFAM86B3P, MIR548I3
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)nssv2493127
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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