A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440046



Internal ID218569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76100881..76123002hg38UCSC Ensembl
chr2:76328007..76350128hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3822122
hg1922122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915517
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440046
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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