A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17101314



Internal ID21481153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:54377013..54377013hg38UCSC Ensembl
chr18:51903383..51903383hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5646727
Supporting Variants
SamplesHG03683
Known GenesC18orf54
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17101314
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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