A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434227



Internal ID212907
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 StatusM
Merged Variants
Supporting Variantsnssv16916921
Samples
Known GenesIL18RAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434227
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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