A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212261



Internal ID22359568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47486002..47486149hg38UCSC Ensembl
chr11:47507554..47507701hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14358211, nssv14358207, nssv14358209, nssv14358208, nssv14358212, nssv14358210
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known GenesCELF1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212261
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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