A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5413264



Internal ID192557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47010399..47010450hg38UCSC Ensembl
chr11:47031950..47032001hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045761
Samples
Known GenesC11orf49
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5413264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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