A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3215719



Internal ID22361954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:184894..193041hg38UCSC Ensembl
Outerchr16:234893..243040hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388148
hg198148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259140, nssv14259141, nssv14259142, nssv14259139
SamplesNA19238, HG00731, HG00732, HG00733
Known GenesLUC7L
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3215719
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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