A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3234073



Internal ID22372922
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267271, nssv14267273, nssv14267275, nssv14267272, nssv14267277, nssv14267274, nssv14267276
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513
Known GenesTSHZ2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3234073
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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