A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457177



Internal ID235228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40779155..40786719hg38UCSC Ensembl
chr5:40779257..40786821hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387565
hg197565
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964495
Samples
Known GenesPRKAA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457177
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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