A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241929



Internal ID22375110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38641539..38654968hg38UCSC Ensembl
Outerchr20:37270182..37283611hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268033, nssv14268030, nssv14268031, nssv14268032, nssv14268029, nssv14268034
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known GenesARHGAP40
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241929
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer