A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448827



Internal ID227086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112750740..112750853hg38UCSC Ensembl
chr2:113508317..113508430hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918210
Samples
Known GenesCKAP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448827
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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