A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5455209



Internal ID233292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138339952..138344379hg38UCSC Ensembl
chr5:137675641..137680068hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg384428
hg194428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974054
Samples
Known GenesFAM53C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5455209
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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