A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3218526



Internal ID22363837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:63177555..63201384hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38903
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14269871, nssv14269873, nssv14269868, nssv14269869, nssv14269872, nssv14269870
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3218526
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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