A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478500



Internal ID256053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:20935800..20953977hg38UCSC Ensembl
chr9:20935799..20953976hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3818178
hg1918178
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17022452
Samples
Known GenesFOCAD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478500
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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