A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469504



Internal ID247288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:125433312..125433751hg38UCSC Ensembl
chr4:126354467..126354906hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38440
hg19440
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16954754
Samples
Known GenesFAT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469504
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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