A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2129428



Internal ID17821800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8346486..8352560hg38UCSC Ensembl
Innerchr19:8411370..8417444hg19UCSC Ensembl
Innerchr19:8317370..8323444hg18UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386075
hg196075
hg186075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978766
Supporting Variants
SamplesHGDP00927
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)nssv2129428
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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