A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418547



Internal ID22476417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121812027..121818718hg38UCSC Ensembl
chr4:122733182..122739873hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg386692
hg196692
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5905834
Supporting Variants
Samples
Known GenesCCNA2, EXOSC9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418547
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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