A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226425



Internal ID22369229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19521332..19521620hg38UCSC Ensembl
chr19:19632141..19632429hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14287276, nssv14287274, nssv14287280, nssv14287275, nssv14287277, nssv14287279, nssv14287273, nssv14287278
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesNDUFA13
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226425
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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