A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952378



Internal ID22727694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55659243..55659243hg38UCSC Ensembl
chr5:54955071..54955071hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419789
Samples
Known GenesSLC38A9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952378
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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