A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5612554



Internal ID21560859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5454687..5454687hg38UCSC Ensembl
chr1:5514747..5514747hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17065438
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5612554
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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