A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489292



Internal ID266581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69711140..69711375hg38UCSC Ensembl
chr8:70623375..70623610hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38236
hg19236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17011984
Samples
Known GenesSLCO5A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489292
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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