A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723819



Internal ID21750140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:12170227..12170227hg38UCSC Ensembl
chr3:12211727..12211727hg19UCSC Ensembl
Cytoband3p25.2
Allele length
AssemblyAllele length
hg38396
hg19396
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238703
Samples
Known GenesSYN2
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)nsv5723819
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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