A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547116



Internal ID320996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:17401869..17401897hg38UCSC Ensembl
chr10:17443868..17443896hg19UCSC Ensembl
Cytoband10p12.33
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17032534
Samples
Known GenesST8SIA6, ST8SIA6-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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