A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469526



Internal ID247310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83421084..83468769hg38UCSC Ensembl
chr4:84342237..84389922hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg3847686
hg1947686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952615
Samples
Known GenesFAM175A, HELQ, MRPS18C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469526
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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