A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489296



Internal ID266585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128621752..128623590hg38UCSC Ensembl
chr9:131384031..131385869hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg381839
hg191839
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028815
Samples
Known GenesSPTAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489296
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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