A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890353



Internal ID167734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:153470000..153582587hg38UCSC Ensembl
chr1:153442476..153555063hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38112588
hg19112588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138060
Supporting Variants
Samples
Known GenesS100A2, S100A3, S100A4, S100A5, S100A6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890353
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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