A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502129



Internal ID279006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:61365378..61366584hg38UCSC Ensembl
chr11:61132850..61134056hg19UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046549
Samples
Known GenesTMEM138
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502129
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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