A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2137824



Internal ID17727426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:17861250..17862337hg38UCSC Ensembl
Innerchr19:17972059..17973146hg19UCSC Ensembl
Innerchr19:17833059..17834146hg18UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381088
hg191088
hg181088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978783
Supporting Variants
SamplesHGDP00456
Known GenesRPL18A
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)nssv2137824
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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