A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6104523



Internal ID22013756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51794895..51794895hg38UCSC Ensembl
chr20:50411434..50411434hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg382031
hg192031
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17617822
Samples
Known GenesSALL4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6104523
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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