A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267943



Internal ID22187789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:16852866..16944004hg38UCSC Ensembl
Outerchr21:18225186..18316324hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3891139
hg1991139
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215195
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267943
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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