A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445131



Internal ID223489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187065571..187065832hg38UCSC Ensembl
chr3:186783359..186783620hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16942628
Samples
Known GenesST6GAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445131
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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