A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473247



Internal ID250933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:151089131..151200368hg38UCSC Ensembl
chr4:152010283..152121520hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38111238
hg19111238
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958644
Samples
Known GenesRPS3A, SH3D19, SNORD73A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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