A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271720



Internal ID22281979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:146251699..146260577hg38UCSC Ensembl
Outerchr3:145969486..145978364hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg388879
hg198879
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195900
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271720
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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