A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16973546



Internal ID49747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131497473..131497524hg38UCSC Ensembl
chr5:130833166..130833217hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5394811
Supporting Variants
Samples
Known GenesRAPGEF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16973546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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