A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687795



Internal ID21714116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168577076..168577076hg38UCSC Ensembl
chr1:168546314..168546314hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182045
Samples
Known GenesXCL1
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5687795
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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