A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219217



Internal ID22364307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:26476025..26490551hg38UCSC Ensembl
Outerchr3:26517516..26532042hg19UCSC Ensembl
Cytoband3p24.1
Allele length
AssemblyAllele length
hg381270
hg191270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272496, nssv14272495
SamplesHG00512, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219217
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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