A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412347



Internal ID21069900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138258433..138267443hg38UCSC Ensembl
chr5:137594122..137603132hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg389011
hg199011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18215048
Samples
Known GenesGFRA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412347
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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