A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6252817



Internal ID22057427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:106149896..106149896hg38UCSC Ensembl
chr2:106766352..106766352hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852498
Samples
Known GenesUXS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6252817
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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