A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244980



Internal ID22376017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2021780..2039136hg38UCSC Ensembl
Outerchr19:2021779..2039135hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38986
hg19986
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262991, nssv14262992, nssv14262993
SamplesNA19238, NA19239, HG00513
Known GenesMKNK2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244980
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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