A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6240120



Internal ID22044730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109178902..109178902hg38UCSC Ensembl
chr9:111941182..111941182hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17841294
Samples
Known GenesEPB41L4B
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6240120
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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