A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266281



Internal ID22273429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:43843791..43860604hg38UCSC Ensembl
Outerchr20:42472431..42489244hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3816814
hg1916814
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228678
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266281
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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