A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906394



Internal ID22681594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122538551..122539236hg38UCSC Ensembl
chr5:121874246..121874931hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38686
hg19686
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17422943
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906394
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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