A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531002



Internal ID306966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55694682..55763000hg38UCSC Ensembl
chr16:55728594..55796912hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3868319
hg1968319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705984
Samples
Known GenesCES1P1, CES1P2, SLC6A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531002
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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