A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187903



Internal ID21635412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202992028..202992028hg38UCSC Ensembl
chr1:202961156..202961156hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5674603
Supporting Variants
Samples
Known GenesLOC401980
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)nssv17187903
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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