A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6481104



Internal ID21138657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:54717466..54718811hg38UCSC Ensembl
chr14:55184184..55185529hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179838
Samples
Known GenesSAMD4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6481104
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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