A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5934811



Internal ID22710143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:32105266..32107720hg38UCSC Ensembl
chr18:29685229..29687683hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382455
hg192455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17378777
Samples
Known GenesRNF138
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5934811
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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