A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251203



Internal ID22055813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6030939..6030939hg38UCSC Ensembl
chr20:6011585..6011585hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850375
Samples
Known GenesCRLS1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251203
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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