A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483100



Internal ID260543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:92044776..92052010hg38UCSC Ensembl
chr8:93057004..93064238hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg387235
hg197235
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17015610
Samples
Known GenesRUNX1T1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483100
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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