A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716197



Internal ID21742518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240484246..240484246hg38UCSC Ensembl
chr1:240647546..240647546hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234718
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)nsv5716197
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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