A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258028



Internal ID22062638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200041004..200041004hg38UCSC Ensembl
chr1:200010132..200010132hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17842209
Samples
Known GenesNR5A2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258028
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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