A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447108



Internal ID225420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69562811..69564064hg38UCSC Ensembl
chr2:69789943..69791196hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381254
hg191254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725898
Samples
Known GenesAAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447108
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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