A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245693



Internal ID22376216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68882357..68898521hg38UCSC Ensembl
Outerchr11:68649825..68665989hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg383229
hg193229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255078, nssv14255079, nssv14255075, nssv14255076, nssv14255077, nssv14255082, nssv14255074, nssv14255081, nssv14255080
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMRPL21
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245693
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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