A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268070



Internal ID22146496
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230760
Supporting Variants
SamplesHG00514
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268070
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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