A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17205659



Internal ID21653168
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 StatusS
Merged Variantsnsv5679959
Supporting Variants
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)nssv17205659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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