A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439902



Internal ID218428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241322409..241339205hg38UCSC Ensembl
chr2:242261824..242278620hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3816797
hg1916797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927200
Samples
Known GenesSEPT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439902
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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