A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267894



Internal ID22322937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:8468045..9003144hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38535100
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227026
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267894
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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