A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489784



Internal ID267055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14038710..14509067hg38UCSC Ensembl
chr8:13896219..14366576hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38470358
hg19470358
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17008349
Samples
Known GenesSGCZ
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489784
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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