A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5949540



Internal ID22724989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17170632..17175661hg38UCSC Ensembl
chr22:17651522..17656551hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg385030
hg195030
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396950
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5949540
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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