A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3196116



Internal ID22346184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:83914143..83995367hg38UCSC Ensembl
Outerchr5:83209962..83291186hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3881225
hg1981225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273649, nssv14273606
SamplesHG00513, HG00514
Known GenesEDIL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3196116
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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