A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230760



Internal ID22372021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61916667..61948558hg38UCSC Ensembl
Outerchr20:60491723..60523614hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381806
hg191806
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268069, nssv14268070
SamplesHG00513, HG00514
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230760
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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