A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265162



Internal ID22203176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:218071922..218090438hg38UCSC Ensembl
Outerchr2:218936645..218955161hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211844
Supporting Variants
SamplesHG00732
Known GenesRUFY4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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