A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207935



Internal ID20774975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:121481500..121653980hg38UCSC Ensembl
chr3:121200347..121372827hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38172481
hg19172481
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6362584
Supporting Variants
Samples
Known GenesARGFX, FBXO40, HCLS1, POLQ
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207935
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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