A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728001



Internal ID21754322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114039717..114039717hg38UCSC Ensembl
chr3:113758564..113758564hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38261
hg19261
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17243736, nssv17239703
Samples
Known GenesKIAA1407
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)nsv5728001
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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