A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704077



Internal ID21730398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70823794..70823794hg38UCSC Ensembl
chr10:72583550..72583550hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17188168
Samples
Known GenesSGPL1
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)nsv5704077
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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