A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407240



Internal ID22465110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197418234..197418234hg38UCSC Ensembl
chr2:198282958..198282958hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5951198
Supporting Variants
Samples
Known GenesSF3B1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407240
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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