A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2403545



Internal ID17532511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:34417379..34425744hg38UCSC Ensembl
Innerchr6:34385156..34393521hg19UCSC Ensembl
Innerchr6:34493134..34501499hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg388366
hg198366
hg188366
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981133
Supporting Variants
SamplesHGDP01307
Known GenesRPS10, RPS10-NUDT3
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)nssv2403545
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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