A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702694



Internal ID21729015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94401313..94401313hg38UCSC Ensembl
chr12:94795089..94795089hg19UCSC Ensembl
Cytoband12q22
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 Variantsnssv17191067
Samples
Known GenesCCDC41
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)nsv5702694
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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