A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5409870



Internal ID189190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125670522..125670573hg38UCSC Ensembl
chr9:128432801..128432852hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027971
Samples
Known GenesMAPKAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5409870
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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