A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17210324



Internal ID21657833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42262409..42262409hg38UCSC Ensembl
chr1:42728080..42728080hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679517
Supporting Variants
Samples
Known GenesFOXJ3
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)nssv17210324
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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