A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267741



Internal ID22203973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:14046635..14087756hg38UCSC Ensembl
Outerchr21:15418956..15460077hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3816858
hg1916858
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241864
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267741
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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