A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6554896



Internal ID20927986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19052570..19211238hg38UCSC Ensembl
chr22:19040083..19198748hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38158669
hg19158666
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204545
Samples
Known GenesCLTCL1, DGCR14, DGCR2, GSC2, LOC100652736, SLC25A1, TSSK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6554896
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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