A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503249



Internal ID280088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125887822..125887991hg38UCSC Ensembl
chr11:125757717..125757886hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053467
Samples
Known GenesHYLS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503249
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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