A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245719



Internal ID22376221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42585488..42616933hg38UCSC Ensembl
Outerchr21:44005598..44037043hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268758
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245719
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