A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917584



Internal ID12468
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 StatusS
Merged Variantsnsv5444118
Supporting Variants
Samples
Known GenesDPP10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917584
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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