A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730852



Internal ID21757173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132577237..132577237hg38UCSC Ensembl
chr3:132296081..132296081hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234643, nssv17243575
Samples
Known GenesACAD11, NPHP3-ACAD11
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)nsv5730852
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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