A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17194302



Internal ID21641811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241582611..241582611hg38UCSC Ensembl
chr1:241745913..241745913hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5686900
Supporting Variants
Samples
Known GenesKMO
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)nssv17194302
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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