A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17177477



Internal ID21624986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109356599..109356599hg38UCSC Ensembl
chr1:109899221..109899221hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5690073
Supporting Variants
Samples
Known GenesSORT1
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)nssv17177477
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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