A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708799



Internal ID21735120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:142009758..142009758hg38UCSC Ensembl
chr7:141709558..141709558hg19UCSC Ensembl
Cytoband7q34
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 Variantsnssv17229853, nssv17182326
Samples
Known GenesMGAM
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)nsv5708799
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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