A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17427292



Internal ID22485162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139442441..139447835hg38UCSC Ensembl
chr5:138778130..138783524hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg385395
hg195395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5902272
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17427292
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004


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