A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407419



Internal ID186753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:14341476..14341527hg38UCSC Ensembl
chr11:14363022..14363073hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041401
Samples
Known GenesRRAS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407419
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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