A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210197



Internal ID22358154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115387657..115427812hg38UCSC Ensembl
Outerchr5:114723354..114763509hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3840156
hg1940156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273619, nssv14273618
SamplesHG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210197
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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