A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402448



Internal ID22460318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238369579..238382521hg38UCSC Ensembl
chr2:239278220..239291162hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3812943
hg1912943
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894681
Supporting Variants
Samples
Known GenesTRAF3IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402448
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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