A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967455



Internal ID22742390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:110750213..110750213hg38UCSC Ensembl
chr5:110085913..110085913hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425077
Samples
Known GenesSLC25A46
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967455
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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