A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5957206



Internal ID22732346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154958481..154958481hg38UCSC Ensembl
chr5:154338041..154338041hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17414637
Samples
Known GenesMRPL22
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5957206
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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