A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5693119



Internal ID21719440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66879967..66879967hg38UCSC Ensembl
chr1:67345650..67345650hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17233088, nssv17205785
Samples
Known GenesWDR78
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)nsv5693119
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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