A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547748



Internal ID321563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102214744..102214771hg38UCSC Ensembl
chr2:102831204..102831231hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916893
Samples
Known GenesIL1RL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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