A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505487



Internal ID282258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126445125..126445203hg38UCSC Ensembl
chr11:126315020..126315098hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053512
Samples
Known GenesKIRREL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505487
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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