A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5692849



Internal ID21719170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95065241..95065241hg38UCSC Ensembl
chr1:95530797..95530797hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17206792, nssv17175860
Samples
Known GenesALG14
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)nsv5692849
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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