A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478457



Internal ID256012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27925431..27927301hg38UCSC Ensembl
chr8:27782948..27784818hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381871
hg191871
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010112
Samples
Known GenesSCARA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478457
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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