A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988754



Internal ID21898097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240308678..240309378hg38UCSC Ensembl
chr2:241248095..241248795hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17530161
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988754
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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