A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17192537



Internal ID21640046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235230616..235230616hg38UCSC Ensembl
chr1:235393931..235393931hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690682
Supporting Variants
Samples
Known GenesARID4B
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)nssv17192537
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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