A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703065



Internal ID21729386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75539451..75539451hg38UCSC Ensembl
chr14:76005794..76005794hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17215625, nssv17196888
Samples
Known GenesBATF
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)nsv5703065
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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