A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483718



Internal ID261148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:120574493..120576401hg38UCSC Ensembl
chr9:123336771..123338679hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381909
hg191909
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17026470
Samples
Known GenesCDK5RAP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483718
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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