A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514038



Internal ID290542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57368050..57368485hg38UCSC Ensembl
chr18:55035281..55035716hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38436
hg19436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718467
Samples
Known GenesST8SIA3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514038
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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