A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518642



Internal ID295022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17501078..17510614hg38UCSC Ensembl
chr19:17611887..17621423hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg389537
hg199537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721951
Samples
Known GenesSLC27A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518642
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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