A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215880



Internal ID22362057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:162920215..162954272hg38UCSC Ensembl
Outerchr2:163776725..163810782hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381095
hg191095
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265605, nssv14265603, nssv14265602, nssv14265604
SamplesNA19238, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215880
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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