A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194758



Internal ID22345031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:96623097..96631765hg38UCSC Ensembl
Outerchr5:95958801..95967469hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg388669
hg198669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273377, nssv14273376
SamplesHG00512, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194758
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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