A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16924783



Internal ID17269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207611618..207722000hg38UCSC Ensembl
chr2:208476342..208586724hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38110383
hg19110383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447785
Supporting Variants
Samples
Known GenesCCNYL1, METTL21A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16924783
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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