A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411084



Internal ID190397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127312492..127312492hg38UCSC Ensembl
chr9:130074771..130074771hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17028760
Samples
Known GenesGARNL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411084
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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