A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451677



Internal ID229852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:37645205..37645291hg38UCSC Ensembl
chr2:37872348..37872434hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912458
Samples
Known GenesCDC42EP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451677
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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