A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5933075



Internal ID22708383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32066991..32098590hg38UCSC Ensembl
chr18:29646954..29678553hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3831600
hg1931600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379759
Samples
Known GenesRNF125, RNF138
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5933075
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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