A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514376



Internal ID290873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75502693..75542786hg38UCSC Ensembl
chr16:75536591..75576684hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3840094
hg1940094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710191
Samples
Known GenesCHST5, TMEM231
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514376
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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