A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266612



Internal ID22135244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:7106916..7130665hg38UCSC Ensembl
Outerchr20:7087563..7111312hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3823750
hg1923750
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217929
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266612
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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