A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504737



Internal ID281532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118685271..118685350hg38UCSC Ensembl
chr10:120444783..120444862hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040822
Samples
Known GenesCACUL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504737
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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