A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206682



Internal ID20773722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21549401..21569200hg38UCSC Ensembl
chr22:21903690..21923489hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3819800
hg1919800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6553605
Supporting Variants
Samples
Known GenesRIMBP3B, RIMBP3C, UBE2L3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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