A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246181



Internal ID22376346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:70442116..70447720hg38UCSC Ensembl
Outerchr10:72201872..72207476hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg383155
hg193155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252620, nssv14252631, nssv14252619
SamplesNA19238, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246181
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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