A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17361171



Internal ID22586840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122685927..122691441hg38UCSC Ensembl
chr12:123170474..123175988hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385515
hg195515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5934258
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17361171
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00


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