A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5488054



Internal ID265375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:132285681..132285786hg38UCSC Ensembl
chr9:135161068..135161173hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17029971
Samples
Known GenesSETX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5488054
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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