A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270219



Internal ID22265459
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193438
Supporting Variants
SamplesNA19238
Known GenesFSTL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270219
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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