A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17353638



Internal ID22579307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80030537..80030615hg38UCSC Ensembl
chr12:80424317..80424395hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940633
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17353638
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.005


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