A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17252654



Internal ID21700163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218930426..218930426hg38UCSC Ensembl
chr2:219795148..219795148hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718442
Supporting Variants
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)nssv17252654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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