A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232407



Internal ID22372491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3964563..4042244hg38UCSC Ensembl
Outerchr19:3964561..4042242hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384971
hg194971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4088n152
Supporting Variantsnssv14263031, nssv14263030, nssv14263029, nssv14263028, nssv14263027, nssv14263026
SamplesNA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesDAPK3, EEF2, PIAS4, SNORD37
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232407
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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