A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875056



Internal ID22650010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26562942..26565666hg38UCSC Ensembl
chr1:26889433..26892157hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382725
hg192725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361484
Samples
Known GenesRPS6KA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875056
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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