A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6447486



Internal ID21105039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:248103..299721hg38UCSC Ensembl
chr11:248103..299721hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3851619
hg1951619
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177540
Samples
Known GenesATHL1, IFITM5, NLRP6, PSMD13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6447486
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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