A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2150045



Internal ID17838101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41083984..41095410hg38UCSC Ensembl
Innerchr19:41589889..41601315hg19UCSC Ensembl
Innerchr19:46281729..46293155hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3811427
hg1911427
hg1811427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978819
Supporting Variants
SamplesHGDP00998
Known GenesCYP2A13
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)nssv2150045
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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