A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2286971



Internal ID17887720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:98497583..98498972hg38UCSC Ensembl
Innerchr3:98216427..98217816hg19UCSC Ensembl
Innerchr3:99699117..99700506hg18UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381390
hg191390
hg181390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979861
Supporting Variants
SamplesHGDP01307
Known GenesOR5K2
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)nssv2286971
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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