A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502209



Internal ID279082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118502169..118560697hg38UCSC Ensembl
chr11:118372884..118431412hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3858529
hg1958529
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053614
Samples
Known GenesIFT46, KMT2A, TMEM25, TTC36
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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