A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654750



Internal ID21603055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39984753..39984753hg38UCSC Ensembl
chr13:40558890..40558890hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17090458, nssv17091136
SamplesHG03125, NA18939
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654750
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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