A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848717



Internal ID22623652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39907841..39921779hg38UCSC Ensembl
chr12:40301643..40315581hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3813939
hg1913939
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17450729
Samples
Known GenesSLC2A13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848717
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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