A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435062



Internal ID213718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70294000..70294634hg38UCSC Ensembl
chr2:70521132..70521766hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38635
hg19635
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914449
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435062
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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