A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5730752



Internal ID21757073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196671179..196671179hg38UCSC Ensembl
chr3:196398050..196398050hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17253031
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)nsv5730752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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