A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438123



Internal ID216694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26802896..26804938hg38UCSC Ensembl
chr2:27025764..27027806hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382043
hg192043
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910608
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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