A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504165



Internal ID280973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125416169..125420424hg38UCSC Ensembl
chr11:125286065..125290320hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg384256
hg194256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17053433
Samples
Known GenesPKNOX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504165
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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