A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5583553



Internal ID21532080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221177587..221177651hg38UCSC Ensembl
chr1:221350929..221350993hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17063401
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5583553
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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