A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243507



Internal ID22375590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:29002267..29027345hg38UCSC Ensembl
Outerchr19:29493174..29518252hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38884
hg19884
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263213, nssv14263217, nssv14263214, nssv14263212, nssv14263211, nssv14263215, nssv14263216, nssv14263210
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00513, HG00514
Known GenesLOC100505835
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243507
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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