A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5407354



Internal ID186688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68990912..68990963hg38UCSC Ensembl
chr10:70750668..70750719hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17035652
Samples
Known GenesKIAA1279
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5407354
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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