A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5911481



Internal ID22686695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73826862..73831016hg38UCSC Ensembl
chr11:73537907..73542061hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg384155
hg194155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17355666
Samples
Known GenesMRPL48
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5911481
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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