A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512743



Internal ID289291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73830919..73833411hg38UCSC Ensembl
chr11:73541964..73544456hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg382493
hg192493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047144
Samples
Known GenesMRPL48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512743
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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