A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692596



Internal ID21718917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:238277703..238277703hg38UCSC Ensembl
chr1:238441003..238441003hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38255
hg19255
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191016, nssv17207784
Samples
Known Genes
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)nsv5692596
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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