A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274917



Internal ID22138985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:62273584..62287832hg38UCSC Ensembl
Outerchr5:61569411..61583659hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3814249
hg1914249
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191779
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274917
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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