A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446419



Internal ID224742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225677281..225677467hg38UCSC Ensembl
chr2:226541997..226542183hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928407
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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