A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685069



Internal ID21711390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95146566..95146566hg38UCSC Ensembl
chr1:95612122..95612122hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175882, nssv17206794
Samples
Known GenesTMEM56, TMEM56-RWDD3
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)nsv5685069
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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