A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5501710



Internal ID278602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46689814..46693208hg38UCSC Ensembl
chr11:46711364..46714758hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg383395
hg193395
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045745
Samples
Known GenesARHGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5501710
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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