A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17414637



Internal ID22472507
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 StatusS
Merged Variantsnsv5957206
Supporting Variants
Samples
Known GenesMRPL22
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17414637
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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