A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240839



Internal ID22374799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:46182296..46187194hg38UCSC Ensembl
Outerchr21:47602210..47607108hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381523
hg191523
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268702, nssv14268703
SamplesNA19238, HG00732
Known GenesSPATC1L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240839
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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