A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2295366



Internal ID17728148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122317575..122319495hg38UCSC Ensembl
Innerchr3:122036422..122038342hg19UCSC Ensembl
Innerchr3:123519112..123521032hg18UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381921
hg191921
hg181921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965205
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2295366
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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