A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267272



Internal ID22135440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:53200154..53207659hg38UCSC Ensembl
Outerchr20:51816693..51824198hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg381061
hg191061
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3234073
Supporting Variants
SamplesHG00513
Known GenesTSHZ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267272
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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