A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274871



Internal ID22262617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:36054140..36065024hg38UCSC Ensembl
Outerchr5:36054242..36065126hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3810885
hg1910885
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207089
Supporting Variants
SamplesNA19238
Known GenesUGT3A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274871
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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