A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6545392



Internal ID20918623
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 StatusM
Merged Variantsdgv4657n223
Supporting Variantsnssv18206786
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6545392
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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