A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192188



Internal ID22342803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:93360032..93371988hg38UCSC Ensembl
Outerchr5:92695738..92707694hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3811957
hg1911957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273611
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192188
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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