A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231841



Internal ID22372352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:63552413..63566379hg38UCSC Ensembl
Outerchr11:63319885..63333851hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg384673
hg194673
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254509, nssv14254505, nssv14254507, nssv14254510, nssv14254508, nssv14254506
SamplesHG00512, NA19238, HG00731, HG00733, HG00513, HG00514
Known GenesHRASLS2, MIR3680-1, MIR3680-2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231841
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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