A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6245476



Internal ID22050086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165690069..165690069hg38UCSC Ensembl
chr1:165659306..165659306hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17839039
Samples
Known GenesALDH9A1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6245476
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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