A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243050



Internal ID22375457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:58528498..58549035hg38UCSC Ensembl
Outerchr19:59039865..59060402hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381029
hg191029
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263963, nssv14263962, nssv14263961
SamplesNA19238, NA19240, HG00514
Known GenesTRIM28
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243050
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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