A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409356



Internal ID188677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19422346..19422350hg38UCSC Ensembl
chr11:19443893..19443897hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044723
Samples
Known GenesNAV2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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