A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685963



Internal ID21712284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:96153611..96153611hg38UCSC Ensembl
chr7:95782923..95782923hg19UCSC Ensembl
Cytoband7q21.3
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 Variantsnssv17182216, nssv17232348
Samples
Known GenesSLC25A13
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)nsv5685963
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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