A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248259



Internal ID21695768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133784473..133784473hg38UCSC Ensembl
chr3:133503317..133503317hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718450
Supporting Variants
Samples
Known GenesSRPRB
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)nssv17248259
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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