A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243349



Internal ID22375546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1615571..1635386hg38UCSC Ensembl
Outerchr19:1615570..1635385hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382520
hg192520
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4060n152
Supporting Variantsnssv14264806
SamplesHG00733
Known GenesTCF3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243349
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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