A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540476



Internal ID315236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231345865..231345901hg38UCSC Ensembl
chr2:232210577..232210613hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928565
Samples
Known GenesARMC9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540476
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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