A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246800



Internal ID22051410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:3827113..3827113hg38UCSC Ensembl
chr9:3827113..3827113hg19UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17840485
Samples
Known GenesGLIS3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246800
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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