A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401121



Internal ID180498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131912819..131912870hg38UCSC Ensembl
chr9:134788206..134788257hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029937
Samples
Known GenesMED27
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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