A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2319495



Internal ID17384720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:62103788..62114943hg38UCSC Ensembl
Innerchr4:62969506..62980661hg19UCSC Ensembl
Innerchr4:62652101..62663256hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3811156
hg1911156
hg1811156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966272
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)nssv2319495
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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