A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267130



Internal ID22187357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45122893..45158066hg38UCSC Ensembl
Outerchr21:46542808..46577981hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3244272
Supporting Variants
SamplesHG00731
Known GenesADARB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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