A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450546



Internal ID228749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230549657..230569406hg38UCSC Ensembl
chr2:231414372..231434121hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3819750
hg1919750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925760
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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