A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480227



Internal ID257736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:79629519..79635688hg38UCSC Ensembl
chr8:80541754..80547923hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg386170
hg196170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013226
Samples
Known GenesSTMN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480227
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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