A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3211134



Internal ID22358797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53819544..53819656hg38UCSC Ensembl
chr19:54322798..54322910hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291944
SamplesHG00513
Known GenesNLRP12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3211134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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