A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916910



Internal ID12002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102361815..102361901hg38UCSC Ensembl
chr2:102978275..102978361hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5443515
Supporting Variants
Samples
Known GenesIL18R1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916910
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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