A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543516



Internal ID20916762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21721214..21775562hg38UCSC Ensembl
chr22:22075503..22129851hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3854349
hg1954349
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206688
Samples
Known GenesMAPK1, YPEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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