A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268071



Internal ID22135712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61918571..61938451hg38UCSC Ensembl
Outerchr20:60493627..60513507hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38965
hg19965
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3249269
Supporting Variants
SamplesHG00513
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268071
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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