A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260237



Internal ID22119202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29269329..29297300hg38UCSC Ensembl
Outerchr16:29280650..29308621hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3827972
hg1927972
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217913
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260237
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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