A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2338406



Internal ID17400431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:144845502..144850683hg38UCSC Ensembl
Innerchr4:145766654..145771835hg19UCSC Ensembl
Innerchr4:145986104..145991285hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg385182
hg195182
hg185182
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv980264
Supporting Variants
SamplesHGDP00521
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)nssv2338406
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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