A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4441286



Internal ID22107466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47541731..47541793hg38UCSC Ensembl
chr11:47563283..47563345hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15766925
Samples
Known GenesCELF1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4441286
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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