A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3193438



Internal ID22343884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120440876..120448728hg38UCSC Ensembl
Outerchr3:120159723..120167575hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg387853
hg197853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14270219, nssv14270221, nssv14270220
SamplesNA19238, NA19239, NA19240
Known GenesFSTL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3193438
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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