A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17045353



Internal ID97988
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 StatusS
Merged Variantsnsv5504444
Supporting Variants
Samples
Known GenesCELF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17045353
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000316


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