A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5618985



Internal ID21567290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227959193..227959193hg38UCSC Ensembl
chr1:228146894..228146894hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063029
SamplesHG03683
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5618985
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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