A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423700



Internal ID22481570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:168448310..168448396hg38UCSC Ensembl
chr6:168848990..168849076hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914065
Supporting Variants
Samples
Known GenesSMOC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423700
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.031


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