A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5412006



Internal ID191310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:102254791..102254796hg38UCSC Ensembl
chr10:104014548..104014553hg19UCSC Ensembl
Cytoband10q24.32
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17039907
Samples
Known GenesGBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5412006
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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