A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5654938



Internal ID21603243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50119790..50119790hg38UCSC Ensembl
chr16:50153701..50153701hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17092252
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5654938
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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