A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687285



Internal ID21713606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108734131..108734131hg38UCSC Ensembl
chr1:109276753..109276753hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17206655, nssv17178977
Samples
Known GenesFNDC7
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)nsv5687285
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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