A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5714784



Internal ID21741105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109903526..109903526hg38UCSC Ensembl
chr1:110446148..110446148hg19UCSC Ensembl
Cytoband1p13.3
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 Variantsnssv17245332, nssv17252269
Samples
Known Genes
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)nsv5714784
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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