A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260232



Internal ID22119194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:3949306..3970607hg38UCSC Ensembl
Outerchr16:3999307..4020608hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3821302
hg1921302
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225828
Supporting Variants
SamplesHG00512
Known GenesADCY9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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