A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5646099



Internal ID21594404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47850232..47850232hg38UCSC Ensembl
chr18:45376603..45376603hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101227
SamplesHG00732
Known GenesSMAD2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5646099
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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