A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206786



Internal ID20773827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25241227..25466234hg38UCSC Ensembl
chr22:25637194..25862201hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38225008
hg19225008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6545392
Supporting Variants
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206786
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00303


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