A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504431



Internal ID281233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102397111..102398361hg38UCSC Ensembl
chr11:102267842..102269092hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg381251
hg191251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17049446
Samples
Known GenesTMEM123
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504431
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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