A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469783



Internal ID247559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1238378..1238642hg38UCSC Ensembl
chr5:1238493..1238757hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961663
Samples
Known GenesSLC6A18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469783
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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