A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400288



Internal ID22458158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48584524..48586118hg38UCSC Ensembl
chr2:48811663..48813257hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg381595
hg191595
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5879258
Supporting Variants
Samples
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400288
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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