A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927999



Internal ID19372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207755971..207756022hg38UCSC Ensembl
chr2:208620695..208620746hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5412535
Supporting Variants
Samples
Known GenesCCNYL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927999
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004527


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