A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267650



Internal ID22135558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:32825391..32846763hg38UCSC Ensembl
Outerchr21:34197701..34219073hg19UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382032
hg192032
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3240333
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267650
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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