A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481552



Internal ID259026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:86388571..86397826hg38UCSC Ensembl
chr8:87400800..87410055hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg389256
hg199256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17013476
Samples
Known GenesWWP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481552
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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