A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3226476



Internal ID22369264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:98183767..98233851hg38UCSC Ensembl
Outerchr3:97902611..97952695hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg381502
hg191502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272512, nssv14272511
SamplesHG00512, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3226476
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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