A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17221680



Internal ID21669189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56166533..56166533hg38UCSC Ensembl
chr1:56632205..56632205hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5687077
Supporting Variants
Samples
Known Genes
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)nssv17221680
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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