A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3242550



Internal ID22375314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:6119482..6129100hg38UCSC Ensembl
Outerchr20:6100129..6109747hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38649
hg19649
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14265831, nssv14265830
SamplesNA19238, NA19239
Known GenesFERMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3242550
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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