A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890394



Internal ID22665421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131487479..131487543hg38UCSC Ensembl
chr5:130823172..130823236hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17425183
Samples
Known GenesRAPGEF6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890394
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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