A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244770



Internal ID22375954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61312630..61349023hg38UCSC Ensembl
Outerchr20:59887686..59924079hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382065
hg192065
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5338n152
Supporting Variantsnssv14267846, nssv14267849, nssv14267848, nssv14267845, nssv14267847, nssv14267850
SamplesHG00512, NA19238, NA19240, HG00733, HG00513, HG00514
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244770
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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