A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5679959



Internal ID21706280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15170160..15170160hg38UCSC Ensembl
chr1:15496656..15496656hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17205659, nssv17176663
Samples
Known GenesC1orf195, TMEM51
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)nsv5679959
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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