A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387117



Internal ID22444987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55828618..55892245hg38UCSC Ensembl
chr16:55862530..55926157hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3863628
hg1963628
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979417
Supporting Variants
Samples
Known GenesCES1, CES5A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387117
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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