A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692858



Internal ID21719179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231780251..231780251hg38UCSC Ensembl
chr1:231915997..231915997hg19UCSC Ensembl
Cytoband1q42.2
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 Variantsnssv17192649
Samples
Known GenesDISC1, TSNAX-DISC1
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)nsv5692858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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