A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979747



Internal ID22754682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65039029..65039029hg38UCSC Ensembl
chr11:64806501..64806501hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38217
hg19217
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358026
Samples
Known GenesARL2-SNX15, SNX15
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979747
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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