A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452391



Internal ID230546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:65130007..65130062hg38UCSC Ensembl
chr2:65357141..65357196hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914590
Samples
Known GenesRAB1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452391
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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