A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2289162



Internal ID17818022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98133193..98133941hg38UCSC Ensembl
Innerchr3:97852037..97852785hg19UCSC Ensembl
Innerchr3:99334727..99335475hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg38749
hg19749
hg18749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv963342
Supporting Variants
SamplesHGDP00927
Known GenesOR5H1
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)nssv2289162
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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