A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916921



Internal ID12011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102425519..102425809hg38UCSC Ensembl
chr2:103041979..103042269hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434227
Supporting Variants
Samples
Known GenesIL18RAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916921
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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