A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687204



Internal ID21713525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151789366..151789366hg38UCSC Ensembl
chr1:151761842..151761842hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180078
Samples
Known GenesTDRKH
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)nsv5687204
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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