A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261794



Internal ID22222721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:70095399..70124143hg38UCSC Ensembl
Outerchr18:67762635..67791379hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3828745
hg1928745
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211096
Supporting Variants
SamplesHG00733
Known GenesRTTN
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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