A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700152



Internal ID21726473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:121961498..121961498hg38UCSC Ensembl
chr8:122973737..122973737hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17219062, nssv17186190
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)nsv5700152
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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