A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456037



Internal ID234107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:131596059..131638786hg38UCSC Ensembl
chr5:130931752..130974479hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3842728
hg1942728
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974977
Samples
Known GenesRAPGEF6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456037
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer