A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463930



Internal ID241820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11830460..11830995hg38UCSC Ensembl
chr5:11830572..11831107hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38536
hg19536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961828
Samples
Known GenesCTNND2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463930
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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