A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271495



Internal ID22186861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:83440751..83493956hg38UCSC Ensembl
Outerchr3:83489902..83543107hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3853206
hg1953206
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190415
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271495
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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