A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2322287



Internal ID17382414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68567522..68572538hg38UCSC Ensembl
Innerchr4:69433240..69438256hg19UCSC Ensembl
Innerchr4:69115835..69120851hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg385017
hg195017
hg185017
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980210
Supporting Variants
SamplesHGDP00456
Known GenesUGT2B17
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)nssv2322287
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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