A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466862



Internal ID244689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131621826..131621958hg38UCSC Ensembl
chr5:130957519..130957651hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974978
Samples
Known GenesRAPGEF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466862
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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