A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504317



Internal ID281123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:669321..702154hg38UCSC Ensembl
chr11:669321..702154hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3832834
hg1932834
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041909
Samples
Known GenesDEAF1, TMEM80
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504317
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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