A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243394



Internal ID22375563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34385975..34399429hg38UCSC Ensembl
Outerchr19:34876880..34890334hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3817069
hg1917069
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264189, nssv14264190, nssv14264184, nssv14264185, nssv14264187, nssv14264188, nssv14264182, nssv14264186, nssv14264183
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGPI
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243394
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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