A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187331



Internal ID21634840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198165679..198165679hg38UCSC Ensembl
chr1:198134809..198134809hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5679442
Supporting Variants
Samples
Known GenesNEK7
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)nssv17187331
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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