A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271081



Internal ID22116475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:72510636..72519229hg38UCSC Ensembl
Outerchr3:72559787..72568380hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg388594
hg198594
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207804
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271081
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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