A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1751464



Internal ID17389122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6185921..6187830hg38UCSC Ensembl
Innerchr1:6245981..6247890hg19UCSC Ensembl
Innerchr1:6168568..6170477hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381910
hg191910
hg181910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945755
Supporting Variants
SamplesHGDP00456
Known GenesRPL22
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)nssv1751464
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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