A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4740934



Internal ID20516911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:23469292..23469426hg38UCSC Ensembl
chr18:21049256..21049390hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288339
Samples
Known GenesRIOK3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4740934
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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