A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6434964



Internal ID21092517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53944256..53999017hg38UCSC Ensembl
chr8:54856816..54911577hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3854762
hg1954762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18226238
Samples
Known GenesRGS20, TCEA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6434964
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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