A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5534593



Internal ID310369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158567692..158567742hg38UCSC Ensembl
chr4:159488844..159488894hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958884
Samples
Known GenesRXFP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5534593
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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