A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468363



Internal ID246161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82270256..82273656hg38UCSC Ensembl
chr5:81566075..81569475hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383401
hg193401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968605
Samples
Known GenesRPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468363
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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