A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3216910



Internal ID22362750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:82080308..82100820hg38UCSC Ensembl
Outerchr3:82129459..82149971hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg385753
hg195753
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272156, nssv14272157, nssv14272155, nssv14272154
SamplesNA19238, NA19239, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3216910
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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