A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251444



Internal ID22056054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41348335..41348335hg38UCSC Ensembl
chr20:39976975..39976975hg19UCSC Ensembl
Cytoband20q12
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 Variantsnssv17849988
Samples
Known GenesLPIN3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251444
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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