A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6246898



Internal ID22051508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:14753870..14753870hg38UCSC Ensembl
chr9:14753868..14753868hg19UCSC Ensembl
Cytoband9p22.3
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 Variantsnssv17840766
Samples
Known GenesFREM1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6246898
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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