A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3203708



Internal ID22352677
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274872, nssv14274873, nssv14274874
SamplesNA19238, HG00513, HG00514
Known GenesCARD6, RPL37, SNORD72
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3203708
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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