A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703599



Internal ID21729920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119788552..119788552hg38UCSC Ensembl
chr8:120800792..120800792hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186162, nssv17221794
Samples
Known GenesTAF2
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)nsv5703599
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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