A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193127



Internal ID22343612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:13406701..13428688hg38UCSC Ensembl
Outerchr5:13406813..13428800hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3821988
hg1921988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273365, nssv14273364, nssv14273366
SamplesHG00512, HG00732, HG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193127
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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