A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690177



Internal ID21716498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100143954..100143954hg38UCSC Ensembl
chr1:100609510..100609510hg19UCSC Ensembl
Cytoband1p21.2
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 Variantsnssv17176187, nssv17206840
Samples
Known GenesTRMT13
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)nsv5690177
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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