A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241873



Internal ID22375094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:22237325..22272549hg38UCSC Ensembl
Outerchr11:22258871..22294095hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg381108
hg191108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254021, nssv14254023, nssv14254022, nssv14254020
SamplesHG00512, NA19239, HG00731, HG00514
Known GenesANO5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241873
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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