A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258610



Internal ID22063220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223708232..223708232hg38UCSC Ensembl
chr1:223895934..223895934hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17843602
Samples
Known GenesCAPN2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258610
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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