A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245251



Internal ID22376100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9017882..9064392hg38UCSC Ensembl
Outerchr21:9856715..9903225hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3828777
hg1928777
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267955, nssv14267956, nssv14267957
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245251
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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