A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974978



Internal ID50705
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 StatusS
Merged Variantsnsv5466862
Supporting Variants
Samples
Known GenesRAPGEF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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