A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5504444



Internal ID281246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47500000..47505000hg38UCSC Ensembl
chr11:47521552..47526552hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045353
Samples
Known GenesCELF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5504444
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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