A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245510



Internal ID22376168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:125859925..125868823hg38UCSC Ensembl
Outerchr11:125729820..125738718hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254531, nssv14254204, nssv14254205, nssv14254206, nssv14254207
SamplesHG00512, NA19238, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245510
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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