A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540131



Internal ID314943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129019856..129019906hg38UCSC Ensembl
chr9:131782135..131782185hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028040
Samples
Known GenesSH3GLB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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