A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2296253



Internal ID17833793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:129336318..129345199hg38UCSC Ensembl
Innerchr3:129055161..129064042hg19UCSC Ensembl
Innerchr3:130537851..130546732hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388882
hg198882
hg188882
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv963362
Supporting Variants
SamplesHGDP00998
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)nssv2296253
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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