A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5498323



Internal ID275315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127815696..127816181hg38UCSC Ensembl
chr11:127685591..127686076hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38486
hg19486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051591
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5498323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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