A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549988



Internal ID20923139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25280189..25561990hg38UCSC Ensembl
chr22:25676156..25957957hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38281802
hg19281802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4663n223
Supporting Variantsnssv18204886
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549988
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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