A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236307



Internal ID22373544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:68643905..68678944hg38UCSC Ensembl
Outerchr11:68411373..68446412hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg382191
hg192191
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255073, nssv14255069, nssv14255070, nssv14255072, nssv14255071
SamplesHG00512, NA19238, HG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236307
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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