A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5711711



Internal ID21738032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:75466428..75466428hg38UCSC Ensembl
chr13:76040564..76040564hg19UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194971, nssv17220616
Samples
Known GenesTBC1D4
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)nsv5711711
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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