A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725826



Internal ID21752147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:55065393..55065393hg38UCSC Ensembl
chr2:55292529..55292529hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17235886, nssv17240604
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)nsv5725826
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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