A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237603



Internal ID22373918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58689551..58708474hg38UCSC Ensembl
Outerchr20:57264607..57283530hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267829, nssv14267831, nssv14267830, nssv14267828
SamplesHG00512, NA19238, HG00732, HG00513
Known GenesNPEPL1, STX16-NPEPL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237603
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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