A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468710



Internal ID246505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158363000..158611381hg38UCSC Ensembl
chr4:159284152..159532533hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38248382
hg19248382
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958865
Samples
Known GenesRXFP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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