A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274872



Internal ID22138947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:40829394..40855533hg38UCSC Ensembl
Outerchr5:40829496..40855635hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3826140
hg1926140
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203708
Supporting Variants
SamplesHG00513
Known GenesCARD6, RPL37, SNORD72
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274872
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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