A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543013



Internal ID20916264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25311625..25615366hg38UCSC Ensembl
chr22:25707592..26011333hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38303742
hg19303742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4663n223
Supporting Variantsnssv18204911
Samples
Known GenesADRBK2, CRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543013
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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