A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918110



Internal ID22693331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130674280..130676999hg38UCSC Ensembl
chr7:130359120..130361839hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg382720
hg192720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17433996
Samples
Known GenesTSGA13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918110
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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