A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912172



Internal ID8867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:36593148..36594394hg38UCSC Ensembl
chr2:36820291..36821537hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5448159
Supporting Variants
Samples
Known GenesFEZ2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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