A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289314



Internal ID17752160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98263463..98264410hg38UCSC Ensembl
Innerchr3:97982307..97983254hg19UCSC Ensembl
Innerchr3:99464997..99465944hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38948
hg19948
hg18948
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963344
Supporting Variants
SamplesHGDP00521
Known GenesOR5H6
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2289314
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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