A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6548729



Internal ID20921912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18952401..19056500hg38UCSC Ensembl
chr22:18939914..19044013hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38104100
hg19104100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4633n223
Supporting Variantsnssv18204537
Samples
Known GenesDGCR10, DGCR11, DGCR2, DGCR5, DGCR9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6548729
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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