A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271973



Internal ID22123481
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218958
Supporting Variants
SamplesHG00512
Known GenesMECOM
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271973
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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