A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267247



Internal ID22199860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:46785131..46797061hg38UCSC Ensembl
Outerchr20:45413770..45425700hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg382123
hg192123
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237412
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267247
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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