A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698062



Internal ID21724383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40583183..40583183hg38UCSC Ensembl
chr19:41089089..41089089hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202757, nssv17220590
Samples
Known GenesSHKBP1
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)nsv5698062
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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