A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242652



Internal ID22375341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61312630..61393756hg38UCSC Ensembl
Outerchr20:59887686..59968812hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382138
hg192138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267017, nssv14267016
SamplesHG00512, NA19240
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242652
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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