A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218958



Internal ID22364131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169545551..169563881hg38UCSC Ensembl
Outerchr3:169263339..169281669hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg385789
hg195789
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271973, nssv14271977, nssv14271975, nssv14271976, nssv14271974
SamplesHG00512, NA19238, HG00731, HG00513, HG00514
Known GenesMECOM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218958
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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