A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2303565



Internal ID17470250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:167693057..167694547hg38UCSC Ensembl
Innerchr3:167410845..167412335hg19UCSC Ensembl
Innerchr3:168893539..168895029hg18UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg381491
hg191491
hg181491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965231
Supporting Variants
SamplesHGDP00927
Known GenesPDCD10
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)nssv2303565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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