A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265830



Internal ID22260060
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242550
Supporting Variants
SamplesNA19238
Known GenesFERMT1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265830
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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