A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193062



Internal ID22343557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:41901496..41908739hg38UCSC Ensembl
Outerchr5:41901598..41908841hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387244
hg197244
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274875
SamplesNA19238
Known GenesC5orf51
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193062
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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