A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2346469



Internal ID17806152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10652564..10653574hg38UCSC Ensembl
Innerchr5:10652676..10653686hg19UCSC Ensembl
Innerchr5:10705676..10706686hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381011
hg191011
hg181011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv968139
Supporting Variants
SamplesHGDP00778
Known GenesANKRD33B
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)nssv2346469
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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