A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468481



Internal ID246279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94269119..94270099hg38UCSC Ensembl
chr4:95190270..95191250hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16952781
Samples
Known GenesSMARCAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468481
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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