A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274513



Internal ID22320568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:136575448..136580124hg38UCSC Ensembl
Outerchr4:137496603..137501279hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg384677
hg194677
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198087
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274513
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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