A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912491



Internal ID22687707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102943488..102944525hg38UCSC Ensembl
chr8:103955716..103956753hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg381038
hg191038
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17429876
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912491
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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