A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227555



Internal ID21675064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139407022..139407022hg38UCSC Ensembl
chr7:139091768..139091768hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696557
Supporting Variants
Samples
Known GenesC7orf55-LUC7L2, LUC7L2
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)nssv17227555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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