A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694414



Internal ID21720735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:35823170..35823170hg38UCSC Ensembl
chr15:36115371..36115371hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17197709
Samples
Known GenesDPH6-AS1
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)nsv5694414
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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