A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557210



Internal ID330316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:129898985..129899036hg38UCSC Ensembl
chr10:131697249..131697300hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17041234
Samples
Known GenesEBF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557210
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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