A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927421



Internal ID18991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181546789..181546847hg38UCSC Ensembl
chr2:182411516..182411574hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439155
Supporting Variants
Samples
Known GenesCERKL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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