A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260207



Internal ID22274277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88137760..88149228hg38UCSC Ensembl
Outerchr16:88171366..88182834hg19UCSC Ensembl
Cytoband16q24.2
Allele length
AssemblyAllele length
hg3811469
hg1911469
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221240
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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