A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444118



Internal ID222499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:115579804..117125259hg38UCSC Ensembl
chr2:116337380..117882835hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg381545456
hg191545456
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917584
Samples
Known GenesDPP10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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