A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246795



Internal ID22051405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:3495867..3495867hg38UCSC Ensembl
chr9:3495867..3495867hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg38231
hg19231
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840480
Samples
Known GenesRFX3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246795
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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