A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266325



Internal ID22121196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:48867085..48885141hg38UCSC Ensembl
Outerchr20:47483622..47501678hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3818057
hg1918057
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218303
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266325
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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