A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251494



Internal ID22056104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49071281..49071281hg38UCSC Ensembl
chr20:47687818..47687818hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850600
Samples
Known GenesCSE1L
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251494
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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