A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3249080



Internal ID22377170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45217652..45246299hg38UCSC Ensembl
Outerchr21:46637567..46666214hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268776, nssv14268778, nssv14268777, nssv14268775
SamplesHG00512, NA19239, HG00731, HG00732
Known GenesADARB1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3249080
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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