A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456611



Internal ID234673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131392374..131392466hg38UCSC Ensembl
chr5:130728067..130728159hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16973540
Samples
Known GenesCDC42SE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456611
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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