A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5697455



Internal ID21723776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:13180748..13180748hg38UCSC Ensembl
chr9:13180747..13180747hg19UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186301
Samples
Known GenesMPDZ
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)nsv5697455
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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