A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546270



Internal ID320234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67035863..67035888hg38UCSC Ensembl
chr11:66803334..66803359hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047609
Samples
Known GenesSYT12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546270
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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