A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464896



Internal ID242767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:133998360..134267360hg38UCSC Ensembl
chr4:134919515..135188515hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38269001
hg19269001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16957874
Samples
Known GenesPABPC4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464896
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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