A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525514



Internal ID301671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49125571..49125905hg38UCSC Ensembl
chr20:47742108..47742442hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38335
hg19335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732811
Samples
Known GenesSTAU1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525514
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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