A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242341



Internal ID22375247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18368017..18382338hg38UCSC Ensembl
Outerchr11:18389564..18403885hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254072, nssv14254070, nssv14254071
SamplesNA19238, NA19240, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242341
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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