A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468533



Internal ID246329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149327063..149327300hg38UCSC Ensembl
chr5:148706626..148706863hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38238
hg19238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974733
Samples
Known GenesAFAP1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468533
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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