A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726098



Internal ID21752419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94913476..94913476hg38UCSC Ensembl
chr1:95379032..95379032hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17244818, nssv17251374
Samples
Known GenesCNN3
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)nsv5726098
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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