A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547167



Internal ID321045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60028680..60028706hg38UCSC Ensembl
chr11:59796153..59796179hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047094
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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