A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260214



Internal ID22295590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:25216981..25225529hg38UCSC Ensembl
Outerchr16:25228302..25236850hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg388549
hg198549
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220168
Supporting Variants
SamplesNA19240
Known GenesAQP8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260214
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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