A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261700



Internal ID22202142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:78612693..78634551hg38UCSC Ensembl
Outerchr18:76372693..76394551hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3821859
hg1921859
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213131
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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