A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265861



Internal ID22121030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:19915256..19930193hg38UCSC Ensembl
Outerchr20:19895900..19910837hg19UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382382
hg192382
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234883
Supporting Variants
SamplesHG00512
Known GenesRIN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265861
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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