A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267624



Internal ID22135544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29007920..29026238hg38UCSC Ensembl
Outerchr21:30380241..30398559hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236373
Supporting Variants
SamplesHG00513
Known GenesRWDD2B, USP16
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267624
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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