A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266664



Internal ID22261881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32169108..32185013hg38UCSC Ensembl
Outerchr20:30756911..30772816hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3815906
hg1915906
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228821
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266664
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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