A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241921



Internal ID22375107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:47726507..47744881hg38UCSC Ensembl
Outerchr13:48300642..48319016hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381440
hg191440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257534, nssv14257533
SamplesNA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241921
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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