A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5690602



Internal ID21716923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:165150070..165150070hg38UCSC Ensembl
chr5:164577076..164577076hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38248
hg19248
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17179314, nssv17222326
Samples
Known Genes
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)nsv5690602
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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