A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5952541



Internal ID22727854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166709330..166709330hg38UCSC Ensembl
chr6:167122818..167122818hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17410794
Samples
Known GenesRPS6KA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5952541
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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