A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262080



Internal ID22145622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:51670270..51699597hg38UCSC Ensembl
Outerchr18:49196640..49225967hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3829328
hg1929328
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226199
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262080
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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