A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479908



Internal ID257422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17771011..17959018hg38UCSC Ensembl
chr8:17628520..17816527hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38188008
hg19188008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17007538
Samples
Known GenesFGL1, MTUS1, PCM1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479908
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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