A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430788



Internal ID21088341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28790908..28922775hg38UCSC Ensembl
chr8:28648425..28780292hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg38131868
hg19131868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18221433
Samples
Known GenesHMBOX1, INTS9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430788
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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