A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677552



Internal ID21703873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162401354..162401354hg38UCSC Ensembl
chr1:162371144..162371144hg19UCSC Ensembl
Cytoband1q23.3
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 Variantsnssv17181575
Samples
Known GenesSH2D1B
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)nsv5677552
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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