A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6425539



Internal ID21083092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:16991401..17048900hg38UCSC Ensembl
chr8:16848910..16906409hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3857500
hg1957500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18222698
Samples
Known GenesFGF20, MICU3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6425539
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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