A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258108



Internal ID22062718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210238392..210238392hg38UCSC Ensembl
chr1:210411737..210411737hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842321
Samples
Known GenesSERTAD4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258108
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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