A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242024



Internal ID22375143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44967583..45034500hg38UCSC Ensembl
Outerchr21:46387498..46454415hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384487
hg194487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268761
SamplesNA19239
Known GenesFAM207A, LINC00162, LINC00163
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242024
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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