A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700504



Internal ID21726825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41492597..41492597hg38UCSC Ensembl
chr12:41886399..41886399hg19UCSC Ensembl
Cytoband12q12
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 Variantsnssv17192198
Samples
Known GenesPDZRN4
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)nsv5700504
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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