A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473549



Internal ID251235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112415990..112416047hg38UCSC Ensembl
chr5:111751687..111751744hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971947
Samples
Known GenesEPB41L4A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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