A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3246103



Internal ID22376328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:45673108..45709344hg38UCSC Ensembl
Outerchr15:45965306..46001542hg19UCSC Ensembl
Cytoband15q21.1
Allele length
AssemblyAllele length
hg382805
hg192805
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258550, nssv14258549, nssv14258551, nssv14258552
SamplesHG00512, HG00732, HG00513, HG00514
Known GenesSQRDL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3246103
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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