A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3195549



Internal ID22345709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:131833685..131852293hg38UCSC Ensembl
Outerchr5:131169378..131187986hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3818609
hg1918609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272674, nssv14272675
SamplesNA19238, HG00513
Known GenesLOC728637
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3195549
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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