A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452651



Internal ID230797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218756884..218789439hg38UCSC Ensembl
chr2:219621607..219654162hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3832556
hg1932556
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928259
Samples
Known GenesCYP27A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452651
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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