A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456457



Internal ID234523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66174155..66174267hg38UCSC Ensembl
chr5:65469983..65470095hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966091
Samples
Known GenesSREK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456457
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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