A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5719166



Internal ID21745487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77701133..77701133hg38UCSC Ensembl
chr1:78166818..78166818hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38369
hg19369
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244018
Samples
Known GenesUSP33
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a SVA mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5719166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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