A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979417



Internal ID22754352
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 StatusM
Merged Variants
Supporting Variantsnssv17387117
Samples
Known GenesCES1, CES5A
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT2]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979417
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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