A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923793



Internal ID16622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213555342..213555404hg38UCSC Ensembl
chr2:214420066..214420128hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445791
Supporting Variants
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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