A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407122



Internal ID186457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112020429..112020480hg38UCSC Ensembl
chr2:112778006..112778057hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16916562
Samples
Known GenesMERTK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407122
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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