A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5958089



Internal ID22716796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135892848..135892848hg38UCSC Ensembl
chr9:138784694..138784694hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17443662
Samples
Known GenesCAMSAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5958089
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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