A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953091



Internal ID22728387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125670507..125670507hg38UCSC Ensembl
chr9:128432786..128432786hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17449560
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953091
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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