A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472440



Internal ID250149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134513856..134513965hg38UCSC Ensembl
chr5:133849547..133849656hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38110
hg19110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974016
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472440
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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