A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879164



Internal ID22654132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47744637..47760734hg38UCSC Ensembl
chr1:48210309..48226406hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3816098
hg1916098
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373918
Samples
Known GenesTRABD2B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879164
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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