A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5715772



Internal ID21742093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33080391..33080391hg38UCSC Ensembl
chr3:33121883..33121883hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17252726
Samples
Known GenesGLB1
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)nsv5715772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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