A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3248507



Internal ID22377008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61312630..61341031hg38UCSC Ensembl
Outerchr20:59887686..59916087hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg384544
hg194544
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5338n152
Supporting Variantsnssv14268100
SamplesHG00731
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3248507
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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