A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242426



Internal ID22375273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:87638701..87657049hg38UCSC Ensembl
Outerchr11:87349593..87367941hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254330, nssv14254331, nssv14254328, nssv14254332, nssv14254333, nssv14254329
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242426
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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