A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3198855



Internal ID22348528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:133797918..133817660hg38UCSC Ensembl
Outerchr5:133133609..133153351hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3819743
hg1919743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7529n152
Supporting Variantsnssv14272683, nssv14272681, nssv14272682, nssv14272684
SamplesNA19238, HG00731, HG00732, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3198855
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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