A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451891



Internal ID230058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:81379475..81453390hg38UCSC Ensembl
chr2:81606599..81680514hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3873916
hg1973916
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915836
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451891
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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