A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699203



Internal ID21725524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55190671..55190671hg38UCSC Ensembl
chr8:56103231..56103231hg19UCSC Ensembl
Cytoband8q12.1
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 Variantsnssv17223464, nssv17183521
Samples
Known GenesXKR4
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)nsv5699203
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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