A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267888



Internal ID22306228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:5558988..5688475hg38UCSC Ensembl
Cytoband
Allele length
AssemblyAllele length
hg38129488
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228015
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267888
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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