A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5651472



Internal ID21599777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57038949..57038949hg38UCSC Ensembl
chr18:54706180..54706180hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17101706
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5651472
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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