A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239185



Internal ID22374359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:38509067..38556216hg38UCSC Ensembl
Outerchr19:38999707..39046856hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381893
hg191893
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264208, nssv14264206, nssv14264213, nssv14264207, nssv14264209, nssv14264214, nssv14264211, nssv14264210, nssv14264212
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRYR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239185
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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