A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2146036



Internal ID17475530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34775773..34776509hg38UCSC Ensembl
Innerchr19:35266678..35267414hg19UCSC Ensembl
Innerchr19:39958518..39959254hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38737
hg19737
hg18737
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960829
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)nssv2146036
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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