A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242852



Internal ID22375402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:6053061..6068650hg38UCSC Ensembl
Outerchr20:6033707..6049296hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg381229
hg191229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267038, nssv14267036, nssv14267037
SamplesHG00512, HG00731, HG00514
Known GenesLRRN4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242852
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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