A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5985501



Internal ID21894844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102381950..102383126hg38UCSC Ensembl
chr2:102998410..102999586hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381177
hg191177
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17529363
Samples
Known GenesIL18R1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5985501
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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