A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469224



Internal ID247013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154452711..154452815hg38UCSC Ensembl
chr5:153832271..153832375hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975236
Samples
Known GenesSAP30L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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