A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6549464



Internal ID20922625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25245877..25470673hg38UCSC Ensembl
chr22:25641844..25866640hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38224797
hg19224797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4657n223
Supporting Variantsnssv18206788
Samples
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6549464
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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