A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894143



Internal ID22669213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228635321..228727648hg38UCSC Ensembl
chr2:229500037..229592364hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3892328
hg1992328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402884
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894143
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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