A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204659



Internal ID20771699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38871801..38873500hg38UCSC Ensembl
chr22:39267806..39269505hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6544659
Supporting Variants
Samples
Known GenesCBX6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204659
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00017


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