A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406175



Internal ID185516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224323729..224323780hg38UCSC Ensembl
chr2:225188446..225188497hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928363
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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