A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5725651



Internal ID21751972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74630814..74630814hg38UCSC Ensembl
chr11:74341859..74341859hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38472
hg19472
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247809
Samples
Known GenesPOLD3
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)nsv5725651
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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