A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2131571



Internal ID17455267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11664893..11673453hg38UCSC Ensembl
Innerchr19:11775708..11784268hg19UCSC Ensembl
Innerchr19:11636708..11645268hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg388561
hg198561
hg188561
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960787
Supporting Variants
SamplesHGDP00778
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)nssv2131571
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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