A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17405475



Internal ID22463345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45299999..45440620hg38UCSC Ensembl
chr21:46719914..46860534hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38140622
hg19140621
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5952675
Supporting Variants
Samples
Known GenesCOL18A1, COL18A1-AS1, COL18A1-AS2, LINC00316
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17405475
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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