A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728471



Internal ID21754792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81721493..81721493hg38UCSC Ensembl
chr17:79688523..79688523hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17251068, nssv17248617
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)nsv5728471
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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