A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14261764



Internal ID22184642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:35771359..35850560hg38UCSC Ensembl
Outerchr18:33351323..33430524hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3879202
hg1979202
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217336
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14261764
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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