A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232782



Internal ID22372590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:519567..531759hg38UCSC Ensembl
Outerchr19:519567..531759hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263793
SamplesHG00732
Known GenesCDC34, TPGS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232782
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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