A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510979



Internal ID287585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46646795..46683702hg38UCSC Ensembl
chr11:46668345..46705252hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3836908
hg1936908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045741
Samples
Known GenesARHGAP1, ATG13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510979
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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