A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438298



Internal ID216866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10302562..10302680hg38UCSC Ensembl
chr2:10442688..10442806hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16909995
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438298
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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