A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687143



Internal ID21713464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:76277758..76277758hg38UCSC Ensembl
chr7:75907076..75907076hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17225087, nssv17182021
Samples
Known GenesSRRM3
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)nsv5687143
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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