A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5675247



Internal ID21701568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:38514652..38514652hg38UCSC Ensembl
chr6:38482428..38482428hg19UCSC Ensembl
Cytoband6p21.2
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 Variantsnssv17179535, nssv17221749
Samples
Known GenesBTBD9
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)nsv5675247
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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