A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268746



Internal ID22273929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:33311059..33333856hg38UCSC Ensembl
Outerchr21:34683364..34706162hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382172
hg192172
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234888
Supporting Variants
SamplesNA19239
Known GenesIFNAR1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268746
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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