A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411700



Internal ID191006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65388753..65388803hg38UCSC Ensembl
chr11:65156224..65156274hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045212
Samples
Known GenesFRMD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411700
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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