A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439047



Internal ID217595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2709186..2709366hg38UCSC Ensembl
chr2:2712958..2713138hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900902
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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