A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243709



Internal ID22375652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45499031..45549382hg38UCSC Ensembl
Outerchr21:46918945..46969296hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381242
hg191242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5593n152
Supporting Variantsnssv14267719
SamplesHG00513
Known GenesCOL18A1, SLC19A1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243709
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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