A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431011



Internal ID209800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117244635..117244635hg38UCSC Ensembl
chr11:117115351..117115351hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38292
hg19292
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17050409
Samples
Known GenesRNF214
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431011
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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