A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270903



Internal ID22225538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112735364..112773879hg38UCSC Ensembl
Outerchr3:112454211..112492726hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg3838516
hg1938516
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3205245
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270903
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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