A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247098



Internal ID22376620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1279865..1329387hg38UCSC Ensembl
Outerchr19:1279864..1329386hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38892
hg19892
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4058n152
Supporting Variantsnssv14263982, nssv14263983, nssv14263984
SamplesHG00512, NA19239, HG00732
Known GenesEFNA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247098
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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