A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716796



Internal ID21743117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:240484232..240484232hg38UCSC Ensembl
chr1:240647532..240647532hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238504
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)nsv5716796
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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