A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389696



Internal ID22447566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122394282..122394520hg38UCSC Ensembl
chr3:122113129..122113367hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889621
Supporting Variants
Samples
Known GenesFAM162A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389696
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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