A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500347



Internal ID277286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:111881818..111882340hg38UCSC Ensembl
chr11:111752542..111753064hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38523
hg19523
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050235
Samples
Known GenesC11orf1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500347
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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