A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2307675



Internal ID17784058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195514467..195516693hg38UCSC Ensembl
Innerchr3:195241263..195243491hg19UCSC Ensembl
Innerchr3:196722552..196724780hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg382227
hg192229
hg182229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963395
Supporting Variants
SamplesHGDP00665
Known GenesPPP1R2
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)nssv2307675
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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