A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396123



Internal ID175543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69379038..69379089hg38UCSC Ensembl
chr9:71993954..71994005hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17023224
Samples
Known GenesFAM189A2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396123
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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