A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452545



Internal ID230697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200863329..200863604hg38UCSC Ensembl
chr2:201728052..201728327hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922864
Samples
Known GenesCLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452545
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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